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Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study. Lancet Neurol. 2024 Jul 23.
van den Berg LH, Rothstein JD, Shaw PJ, Babu S, Benatar M, Bucelli RC, Genge A, Glass JD, Hardiman O, Libri V, Mobach T, Oskarsson B, Pattee GL, Ravits J, Shaw CE, Weber M, Zinman L, Jafar-Nejad P, Rigo F, Lin L, Ferguson TA, Gotter AL, Graham D, Monine M, Inra J, Sinks S, Eraly S, Garafalo S, Fradette S. PMID: 39059407.
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PubMed Mentions:
1 Fields:
Translation:
HumansCTClinical Trials
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Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy. Acta Neuropathol. 2024 05 30; 147(1):93.
Costantino I, Meng A, Ravits J. PMID: 38814471; PMCID: PMC11139733.
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PubMed Mentions: Fields:
Translation:
HumansCells
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CK1δ/ε kinases regulate TDP-43 phosphorylation and are therapeutic targets for ALS-related TDP-43 hyperphosphorylation. Neurobiol Dis. 2024 Jun 15; 196:106516.
Ko VI, Ong K, Cleveland DW, Yu H, Ravits JM. PMID: 38677657.
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PubMed Mentions: Fields:
Translation:
HumansCells
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Misfolded alpha-synuclein in amyotrophic lateral sclerosis: Implications for diagnosis and treatment. Eur J Neurol. 2024 Apr; 31(4):e16206.
Smith R, Hovren H, Bowser R, Bakkar N, Garruto R, Ludolph A, Ravits J, Gaertner L, Murphy D, Lebovitz R. PMID: 38270442; PMCID: PMC11235862.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Challenges of profiling motor neuron transcriptomes from human spinal cord. Neuron. 2023 Dec 06; 111(23):3739-3741.
Gautier O, Blum JA, Maksymetz J, Chen D, Schweingruber C, Mei I, Hermann A, Hackos DH, Hedlund E, Ravits J, Gitler AD. PMID: 38061330.
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PubMed Mentions:
1 Fields:
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Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv. 2023 Dec 01.
Zhou Z, Kim J, Huang AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, Ravits J, Ansorge O, Ostrow LW, Lagier-Tourenne C, Lee EA, Walsh CA. PMID: 38077003; PMCID: PMC10705414.
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PubMed Mentions:
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Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation. Nat Neurosci. 2024 Jan; 27(1):34-47.
López-Erauskin J, Bravo-Hernandez M, Presa M, Baughn MW, Melamed Z, Beccari MS, Agra de Almeida Quadros AR, Arnold-Garcia O, Zuberi A, Ling K, Platoshyn O, Niño-Jara E, Ndayambaje IS, McAlonis-Downes M, Cabrera L, Artates JW, Ryan J, Hermann A, Ravits J, Bennett CF, Jafar-Nejad P, Rigo F, Marsala M, Lutz CM, Cleveland DW, Lagier-Tourenne C. PMID: 37996528; PMCID: PMC10842032.
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PubMed Mentions:
2 Fields:
Translation:
AnimalsCells
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FUS-dependent microRNA deregulations identify TRIB2 as a druggable target for ALS motor neurons. iScience. 2023 Nov 17; 26(11):108152.
Ho WY, Chak LL, Hor JH, Liu F, Diaz-Garcia S, Chang JC, Sanford E, Rodriguez MJ, Alagappan D, Lim SM, Cho YL, Shimizu Y, Sun AX, Tyan SH, Koo E, Kim SH, Ravits J, Ng SY, Okamura K, Ling SC. PMID: 37920668; PMCID: PMC10618709.
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PubMed Mentions:
-
View in:
PubMed Mentions:
1
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Reply: The lower motor neuron homunculus: function matters. Brain. 2023 06 01; 146(6):e36-e38.
Ravits J, Stack J. PMID: 36729779.
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Translation:
HumansCells
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Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment. J Neurosci. 2023 01 11; 43(2):333-345.
Bonham LW, Geier EG, Sirkis DW, Leong JK, Ramos EM, Wang Q, Karydas A, Lee SE, Sturm VE, Sawyer RP, Friedberg A, Ichida JK, Gitler AD, Sugrue L, Cordingley M, Bee W, Weber E, Kramer JH, Rankin KP, Rosen HJ, Boxer AL, Seeley WW, Ravits J, Miller BL, Yokoyama JS. PMID: 36446586; PMCID: PMC9838702.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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The lower motor neuron homunculus. Brain. 2022 11 21; 145(11):3727-3729.
Ravits J, Stack J. PMID: 36029046; PMCID: PMC9679163.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis. Neurobiol Aging. 2023 02; 122:76-87.
Tazelaar GHP, Hop PJ, Seelen M, van Vugt JJFA, van Rheenen W, Kool L, van Eijk KR, Gijzen M, Dooijes D, Moisse M, Calvo A, Moglia C, Brunetti M, Canosa A, Nordin A, Pardina JSM, Ravits J, Al-Chalabi A, Chio A, McLaughlin RL, Hardiman O, Van Damme P, de Carvalho M, Neuwirth C, Weber M, Andersen PM, van den Berg LH, Veldink JH, van Es MA. PMID: 36521271.
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PubMed Mentions: Fields:
Translation:
Humans
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Heat-shock chaperone HSPB1 regulates cytoplasmic TDP-43 phase separation and liquid-to-gel transition. Nat Cell Biol. 2022 09; 24(9):1378-1393.
Lu S, Hu J, Arogundade OA, Goginashvili A, Vazquez-Sanchez S, Diedrich JK, Gu J, Blum J, Oung S, Ye Q, Yu H, Ravits J, Liu C, Yates JR, Cleveland DW. PMID: 36075972; PMCID: PMC9872726.
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PubMed Mentions:
37 Fields:
Translation:
HumansCells
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Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. Acta Neuropathol. 2022 09; 144(3):413-435.
Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW, Winner B. PMID: 35778567; PMCID: PMC9381448.
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PubMed Mentions:
8 Fields:
Translation:
HumansAnimalsCells
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Nuclear RIPK1 promotes chromatin remodeling to mediate inflammatory response. Cell Res. 2022 07; 32(7):621-637.
Li W, Shan B, Zou C, Wang H, Zhang MM, Zhu H, Naito MG, Xu D, Manuel VJ, Mifflin L, Hou Z, Ravits J, Yuan J. PMID: 35661830; PMCID: PMC9253060.
View in:
PubMed Mentions:
10 Fields:
Translation:
AnimalsCells
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Delivering Bad News in Amyotrophic Lateral Sclerosis: Proposal of Specific Technique ALS ALLOW. Neurol Clin Pract. 2021 Dec; 11(6):521-526.
Edwards WF, Malik S, Peters J, Chippendale I, Ravits J. PMID: 34992959; PMCID: PMC8723938.
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PubMed Mentions:
1
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Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Elife. 2021 11 19; 10.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L, Queen Square Genomics, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. PMID: 34796871; PMCID: PMC8735862.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimals
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Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis. Acta Neuropathol. 2021 12; 142(6):985-1001.
Diaz-Garcia S, Ko VI, Vazquez-Sanchez S, Chia R, Arogundade OA, Rodriguez MJ, Traynor BJ, Cleveland D, Ravits J. PMID: 34618203; PMCID: PMC8568872.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021 10 01; 78(10):1236-1248.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALS, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E. PMID: 34459874; PMCID: PMC8406220.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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TDP-43 mediates SREBF2-regulated gene expression required for oligodendrocyte myelination. J Cell Biol. 2021 09 06; 220(9).
Ho WY, Chang JC, Lim K, Cazenave-Gassiot A, Nguyen AT, Foo JC, Muralidharan S, Viera-Ortiz A, Ong SJM, Hor JH, Agrawal I, Hoon S, Arogundade OA, Rodriguez MJ, Lim SM, Kim SH, Ravits J, Ng SY, Wenk MR, Lee EB, Tucker-Kellogg G, Ling SC. PMID: 34347016; PMCID: PMC8348376.
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PubMed Mentions:
16 Fields:
Translation:
HumansAnimalsCells
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Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype. Front Aging Neurosci. 2021; 13:658226.
Theunissen F, Anderton RS, Mastaglia FL, Flynn LL, Winter SJ, James I, Bedlack R, Hodgetts S, Fletcher S, Wilton SD, Laing NG, MacShane M, Needham M, Saunders A, Mackay-Sim A, Melamed Z, Ravits J, Cleveland DW, Akkari PA. PMID: 33841129; PMCID: PMC8033025.
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PubMed Mentions:
24
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Nucleolar stress in C9orf72 and sporadic ALS spinal motor neurons precedes TDP-43 mislocalization. Acta Neuropathol Commun. 2021 02 15; 9(1):26.
Aladesuyi Arogundade O, Nguyen S, Leung R, Wainio D, Rodriguez M, Ravits J. PMID: 33588953; PMCID: PMC7885352.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures. Cell Syst. 2021 02 17; 12(2):159-175.e9.
Ho R, Workman MJ, Mathkar P, Wu K, Kim KJ, O'Rourke JG, Kellogg M, Montel V, Banuelos MG, Arogundade OA, Diaz-Garcia S, Oheb D, Huang S, Khrebtukova I, Watson L, Ravits J, Taylor K, Baloh RH, Svendsen CN. PMID: 33382996; PMCID: PMC7897311.
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PubMed Mentions:
21 Fields:
Translation:
HumansAnimalsCells
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Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. EMBO Mol Med. 2021 01 11; 13(1):e12595.
Placek K, Benatar M, Wuu J, Rampersaud E, Hennessy L, Van Deerlin VM, Grossman M, Irwin DJ, Elman L, McCluskey L, Quinn C, Granit V, Statland JM, Burns TM, Ravits J, Swenson A, Katz J, Pioro EP, Jackson C, Caress J, So Y, Maiser S, Walk D, Lee EB, Trojanowski JQ, Cook P, Gee J, Sha J, Naj AC, Rademakers R, CReATe Consortium, Chen W, Wu G, Paul Taylor J, McMillan CT. PMID: 33270986; PMCID: PMC7799365.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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ALS motor neurons exhibit hallmark metabolic defects that are rescued by SIRT3 activation. Cell Death Differ. 2021 04; 28(4):1379-1397.
Hor JH, Santosa MM, Lim VJW, Ho BX, Taylor A, Khong ZJ, Ravits J, Fan Y, Liou YC, Soh BS, Ng SY. PMID: 33184465; PMCID: PMC8027637.
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PubMed Mentions:
33 Fields:
Translation:
HumansAnimalsCells
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Preface: promoting research in PLS: current knowledge and future challenges. Amyotroph Lateral Scler Frontotemporal Degener. 2020 11; 21(sup1):1-2.
Mitsumoto H, Turner MR, all Delegates of the PLS Conference, Ajroud-Driss S, Andres P, Andrews J, Gomez EA, Atehortua JMS, Babu S, Barohn R, Bede P, Benatar M, Chew S, Conwit R, Corcia P, Cudkowicz M, Davis F, Carvalho M, Drory V, Elman L, Factor-Litvak P, Fernandes JAM, Ferrey D, Finegan E, Fink J, Floeter MK, Fournier C, Genge A, Govindarajan R, Granit V, Haase G, Hardiman O, Harms M, Hayat G, Heiman-Patterson T, Hill B, Hübers A, Huey E, Jawdat O, Kano O, Kau K, Kiernan M, Kisanuki Y, Kurent J, Kwan J, Lange D, Ludolph A, Mackenzie I, Manfredi G, Marren D, Morita M, Murphy J, Nations S, Oskarsson B, Paganoni S, Pellerin D, Ravits J, Rezania K, Rouleau G, Scelsa S, Siddique T, Siddique N, Silani V, Simmons Z, Statland J, Traynor B, Blitterswijk MV, Berg LVD, Walk D, Warden D, Wymer J. PMID: 33602018.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. N Engl J Med. 2020 07 09; 383(2):109-119.
Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, Genge A, Glass J, Ladha S, Ludolph AL, Maragakis NJ, McDermott CJ, Pestronk A, Ravits J, Salachas F, Trudell R, Van Damme P, Zinman L, Bennett CF, Lane R, Sandrock A, Runz H, Graham D, Houshyar H, McCampbell A, Nestorov I, Chang I, McNeill M, Fanning L, Fradette S, Ferguson TA. PMID: 32640130.
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PubMed Mentions:
207 Fields:
Translation:
HumansCellsCTClinical Trials
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Understanding the needs of people with ALS: a national survey of patients and caregivers. Amyotroph Lateral Scler Frontotemporal Degener. 2020 08; 21(5-6):355-363.
Brizzi KT, Bridges JFP, Yersak J, Balas C, Thakur N, Galvin M, Hardiman O, Heatwole C, Ravits J, Simmons Z, Bruijn L, Chan J, Bedlack R, Berry JD. PMID: 32396393.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology. 2020 07 07; 95(1):e59-e69.
Benatar M, Zhang L, Wang L, Granit V, Statland J, Barohn R, Swenson A, Ravits J, Jackson C, Burns TM, Trivedi J, Pioro EP, Caress J, Katz J, McCauley JL, Rademakers R, Malaspina A, Ostrow LW, Wuu J, CReATe Consortium. PMID: 32385188; PMCID: PMC7371380.
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PubMed Mentions:
88 Fields:
Translation:
HumansCells
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Author Correction: Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells. Nat Commun. 2020 04 20; 11(1):1958.
Koga T, Chaim IA, Benitez JA, Markmiller S, Parisian AD, Hevner RF, Turner KM, Hessenauer FM, D'Antonio M, Nguyen ND, Saberi S, Ma J, Miki S, Boyer AD, Ravits J, Frazer KA, Bafna V, Chen CC, Mischel PS, Yeo GW, Furnari FB. PMID: 32312984; PMCID: PMC7171109.
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PubMed Mentions:
1 Fields:
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Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nat Neurosci. 2020 05; 23(5):615-624.
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW. PMID: 32284607; PMCID: PMC7384305.
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PubMed Mentions:
112 Fields:
Translation:
AnimalsCells
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Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry. 2020 04; 91(4):373-377.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH, Delegates of the 2nd International PLS Conference, Mitsumoto H. PMID: 32029539; PMCID: PMC7147236.
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PubMed Mentions:
62 Fields:
Translation:
HumansCells
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Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells. Nat Commun. 2020 Jan 28; 11(1):550.
Koga T, Chaim IA, Benitez JA, Markmiller S, Parisian AD, Hevner RF, Turner KM, Hessenauer FM, D'Antonio M, Nguyen ND, Saberi S, Ma J, Miki S, Boyer AD, Ravits J, Frazer KA, Bafna V, Chen CC, Mischel PS, Yeo GW, Furnari FB. PMID: 31992716; PMCID: PMC6987220.
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PubMed Mentions:
30 Fields:
Translation:
HumansAnimalsCells
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Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Sci Transl Med. 2019 12 18; 11(523).
Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B, Ravid R, Mandelbaum AD, Yanowski E, Liang J, Rymer JK, Levy R, Beck G, Ainbinder E, Farhan SMK, Lennox KA, Bode NM, Behlke MA, Möller T, Saxena S, Moreno CAM, Costaguta G, van Eijk KR, Phatnani H, Al-Chalabi A, Basak AN, van den Berg LH, Hardiman O, Landers JE, Mora JS, Morrison KE, Shaw PJ, Veldink JH, Pfaff SL, Yizhar O, Gross C, Brown RH, Ravits JM, Harms MB, Miller TM, Hornstein E. PMID: 31852800; PMCID: PMC7057809.
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PubMed Mentions:
27 Fields:
Translation:
HumansAnimalsCells
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Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia. Cell Rep. 2019 10 29; 29(5):1164-1177.e5.
Tam OH, Rozhkov NV, Shaw R, Kim D, Hubbard I, Fennessey S, Propp N, NYGC ALS Consortium, Fagegaltier D, Harris BT, Ostrow LW, Phatnani H, Ravits J, Dubnau J, Gale Hammell M. PMID: 31665631; PMCID: PMC6866666.
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PubMed Mentions:
127 Fields:
Translation:
HumansCells
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Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. Neurotherapeutics. 2019 10; 16(4):1115-1132.
Jiang J, Ravits J. PMID: 31667754; PMCID: PMC6985338.
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PubMed Mentions:
15 Fields:
Translation:
HumansAnimalsCells
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Predicting disease specific spinal motor neurons and glia in sporadic ALS. Neurobiol Dis. 2019 10; 130:104523.
Dachet F, Liu J, Ravits J, Song F. PMID: 31276795.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Membralin deficiency dysregulates astrocytic glutamate homeostasis leading to ALS-like impairment. J Clin Invest. 2019 05 21; 129(8):3103-3120.
Jiang LL, Zhu B, Zhao Y, Li X, Liu T, Pina-Crespo J, Zhou L, Xu W, Rodriguez MJ, Yu H, Cleveland DW, Ravits J, Da Cruz S, Long T, Zhang D, Huang TY, Xu H. PMID: 31112137; PMCID: PMC6668683.
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PubMed Mentions:
17 Fields:
Translation:
HumansAnimalsCells
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Antisense RNA foci are associated with nucleoli and TDP-43 mislocalization in C9orf72-ALS/FTD: a quantitative study. Acta Neuropathol. 2019 03; 137(3):527-530.
Aladesuyi Arogundade O, Stauffer JE, Saberi S, Diaz-Garcia S, Malik S, Basilim H, Rodriguez MJ, Ohkubo T, Ravits J. PMID: 30666413; PMCID: PMC6397670.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. Nat Neurosci. 2019 02; 22(2):180-190.
Melamed Z, López-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, Freyermuth F, McMahon MA, Beccari MS, Artates JW, Ohkubo T, Rodriguez M, Lin N, Wu D, Bennett CF, Rigo F, Da Cruz S, Ravits J, Lagier-Tourenne C, Cleveland DW. PMID: 30643298; PMCID: PMC6348009.
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PubMed Mentions:
210 Fields:
Translation:
HumansCells
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TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates. Nat Neurosci. 2019 01; 22(1):65-77.
Laferrière F, Maniecka Z, Pérez-Berlanga M, Hruska-Plochan M, Gilhespy L, Hock EM, Wagner U, Afroz T, Boersema PJ, Barmettler G, Foti SC, Asi YT, Isaacs AM, Al-Amoudi A, Lewis A, Stahlberg H, Ravits J, De Giorgi F, Ichas F, Bezard E, Picotti P, Lashley T, Polymenidou M. PMID: 30559480.
View in:
PubMed Mentions:
91 Fields:
Translation:
HumansAnimalsCells
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Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis. Mob DNA. 2018; 9:35.
Pereira GC, Sanchez L, Schaughency PM, Rubio-Roldán A, Choi JA, Planet E, Batra R, Turelli P, Trono D, Ostrow LW, Ravits J, Kazazian HH, Wheelan SJ, Heras SR, Mayer J, García-Pérez JL, Goodier JL. PMID: 30564290; PMCID: PMC6295051.
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PubMed Mentions:
21
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Clinical Reasoning: A 22-year-old man presenting with headache and right leg jerks. Neurology. 2018 11 06; 91(19):891-895.
Schupper AJ, McGehrin K, Ravits J, Lee D. PMID: 30397040.
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PubMed Mentions: Fields:
Translation:
Humans
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Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins. Mol Neurodegener. 2018 08 02; 13(1):39.
Mayer J, Harz C, Sanchez L, Pereira GC, Maldener E, Heras SR, Ostrow LW, Ravits J, Batra R, Meese E, García-Pérez JL, Goodier JL. PMID: 30068350; PMCID: PMC6091006.
View in:
PubMed Mentions:
33 Fields:
Translation:
HumansCells
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Astrocyte-derived Jagged-1 mitigates deleterious Notch signaling in amyotrophic lateral sclerosis. Neurobiol Dis. 2018 11; 119:26-40.
Nonneman A, Criem N, Lewandowski SA, Nuyts R, Thal DR, Pfrieger FW, Ravits J, Van Damme P, Zwijsen A, Van Den Bosch L, Robberecht W. PMID: 30010003.
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PubMed Mentions:
14 Fields:
Translation:
HumansAnimalsCells
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Transcriptome-pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS. Acta Neuropathol. 2018 09; 136(3):405-423.
Krach F, Batra R, Wheeler EC, Vu AQ, Wang R, Hutt K, Rabin SJ, Baughn MW, Libby RT, Diaz-Garcia S, Stauffer J, Pirie E, Saberi S, Rodriguez M, Madrigal AA, Kohl Z, Winner B, Yeo GW, Ravits J. PMID: 29881994; PMCID: PMC6215775.
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PubMed Mentions:
42 Fields:
Translation:
HumansCells
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Elongator subunit 3 (ELP3) modifies ALS through tRNA modification. Hum Mol Genet. 2018 04 01; 27(7):1276-1289.
Bento-Abreu A, Jager G, Swinnen B, Rué L, Hendrickx S, Jones A, Staats KA, Taes I, Eykens C, Nonneman A, Nuyts R, Timmers M, Silva L, Chariot A, Nguyen L, Ravits J, Lemmens R, Cabooter D, Van Den Bosch L, Van Damme P, Al-Chalabi A, Bystrom A, Robberecht W. PMID: 29415125; PMCID: PMC6159532.
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PubMed Mentions:
31 Fields:
Translation:
AnimalsCells
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 2018 03 21; 97(6):1267-1288.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A, ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L, Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB, ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM, NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC, Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J, SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C, French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A, Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE. PMID: 29566793; PMCID: PMC5867896.
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PubMed Mentions:
309 Fields:
Translation:
HumansCells
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Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind crossover trial. Muscle Nerve. 2018 Mar 06.
Oskarsson B, Moore D, Mozaffar T, Ravits J, Wiedau-Pazos M, Parziale N, Joyce NC, Mandeville R, Goyal N, Cudkowicz ME, Weiss M, Miller RG, McDonald CM. PMID: 29510461; PMCID: PMC6126993.
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PubMed Mentions:
20 Fields:
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Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis. Acta Neuropathol. 2018 03; 135(3):459-474.
Saberi S, Stauffer JE, Jiang J, Garcia SD, Taylor AE, Schulte D, Ohkubo T, Schloffman CL, Maldonado M, Baughn M, Rodriguez MJ, Pizzo D, Cleveland D, Ravits J. PMID: 29196813; PMCID: PMC5935138.
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PubMed Mentions:
101 Fields:
Translation:
HumansCells
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Kinnier Wilson's puzzling features of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2018 06; 89(6):657-666.
Turner MR, Eisen A, Kiernan MC, Ravits J, Swash M. PMID: 29122933.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients. Mol Neurodegener. 2017 10 24; 12(1):76.
Konrad C, Kawamata H, Bredvik KG, Arreguin AJ, Cajamarca SA, Hupf JC, Ravits JM, Miller TM, Maragakis NJ, Hales CM, Glass JD, Gross S, Mitsumoto H, Manfredi G. PMID: 29065921; PMCID: PMC5655870.
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PubMed Mentions:
35 Fields:
Translation:
HumansCells
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Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS). Cold Spring Harb Perspect Med. 2017 Aug 01; 7(8).
Grad LI, Rouleau GA, Ravits J, Cashman NR. PMID: 28003278; PMCID: PMC5538408.
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PubMed Mentions:
95 Fields:
Translation:
HumansCells
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Mutant TDP-43 does not impair mitochondrial bioenergetics in vitro and in vivo. Mol Neurodegener. 2017 05 08; 12(1):37.
Kawamata H, Peixoto P, Konrad C, Palomo G, Bredvik K, Gerges M, Valsecchi F, Petrucelli L, Ravits JM, Starkov A, Manfredi G. PMID: 28482850; PMCID: PMC5422931.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
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Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis. Acta Neuropathol. 2017 06; 133(6):907-922.
Ditsworth D, Maldonado M, McAlonis-Downes M, Sun S, Seelman A, Drenner K, Arnold E, Ling SC, Pizzo D, Ravits J, Cleveland DW, Da Cruz S. PMID: 28357566; PMCID: PMC5427168.
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PubMed Mentions:
41 Fields:
Translation:
HumansAnimalsCells
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Misfolded SOD1 is not a primary component of sporadic ALS. Acta Neuropathol. 2017 07; 134(1):97-111.
Da Cruz S, Bui A, Saberi S, Lee SK, Stauffer J, McAlonis-Downes M, Schulte D, Pizzo DP, Parone PA, Cleveland DW, Ravits J. PMID: 28247063; PMCID: PMC5472502.
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PubMed Mentions:
46 Fields:
Translation:
HumansAnimalsCells
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TDP-43 protein variants as biomarkers in amyotrophic lateral sclerosis. BMC Neurosci. 2017 01 25; 18(1):20.
Williams SM, Khan G, Harris BT, Ravits J, Sierks MR. PMID: 28122516; PMCID: PMC5264476.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Sleep Apnea in Familial Dysautonomia: A Reflection of Apnea Pathogenesis. J Clin Sleep Med. 2016 12 15; 12(12):1583-1584.
Orr JE, Deacon N, Ravits J. PMID: 27855745; PMCID: PMC5155200.
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PubMed Mentions: Fields:
Translation:
Humans
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Pathological TDP-43 changes in Betz cells differ from those in bulbar and spinal α-motoneurons in sporadic amyotrophic lateral sclerosis. Acta Neuropathol. 2017 01; 133(1):79-90.
Braak H, Ludolph AC, Neumann M, Ravits J, Del Tredici K. PMID: 27757524; PMCID: PMC5209403.
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PubMed Mentions:
35 Fields:
Translation:
HumansCells
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RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS. Science. 2016 Aug 05; 353(6299):603-8.
Ito Y, Ofengeim D, Najafov A, Das S, Saberi S, Li Y, Hitomi J, Zhu H, Chen H, Mayo L, Geng J, Amin P, DeWitt JP, Mookhtiar AK, Florez M, Ouchida AT, Fan JB, Pasparakis M, Kelliher MA, Ravits J, Yuan J. PMID: 27493188; PMCID: PMC5444917.
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PubMed Mentions:
286 Fields:
Translation:
HumansAnimalsCells
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Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses. Nat Commun. 2016 07 05; 7:12143.
Kapeli K, Pratt GA, Vu AQ, Hutt KR, Martinez FJ, Sundararaman B, Batra R, Freese P, Lambert NJ, Huelga SC, Chun SJ, Liang TY, Chang J, Donohue JP, Shiue L, Zhang J, Zhu H, Cambi F, Kasarskis E, Hoon S, Ares M, Burge CB, Ravits J, Rigo F, Yeo GW. PMID: 27378374; PMCID: PMC4935974.
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PubMed Mentions:
82 Fields:
Translation:
HumansAnimalsCells
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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron. 2016 05 04; 90(3):535-50.
Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M, Watt A, Heyser CJ, Ard MC, De Muynck L, Daughrity LM, Swing DA, Tessarollo L, Jung CJ, Delpoux A, Utzschneider DT, Hedrick SM, de Jong PJ, Edbauer D, Van Damme P, Petrucelli L, Shaw CE, Bennett CF, Da Cruz S, Ravits J, Rigo F, Cleveland DW, Lagier-Tourenne C. PMID: 27112497; PMCID: PMC4860075.
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PubMed Mentions:
259 Fields:
Translation:
AnimalsCells
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Neuregulin 1 confers neuroprotection in SOD1-linked amyotrophic lateral sclerosis mice via restoration of C-boutons of spinal motor neurons. Acta Neuropathol Commun. 2016 Feb 18; 4:15.
Lasiene J, Komine O, Fujimori-Tonou N, Powers B, Endo F, Watanabe S, Shijie J, Ravits J, Horner P, Misawa H, Yamanaka K. PMID: 26891847; PMCID: PMC4758105.
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PubMed Mentions:
23 Fields:
Translation:
HumansAnimalsCells
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Targeted axonal import (TAxI) peptide delivers functional proteins into spinal cord motor neurons after peripheral administration. Proc Natl Acad Sci U S A. 2016 Mar 01; 113(9):2514-9.
Sellers DL, Bergen JM, Johnson RN, Back H, Ravits JM, Horner PJ, Pun SH. PMID: 26888285; PMCID: PMC4780603.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants. Neurol Clin. 2015 Nov; 33(4):855-76.
Saberi S, Stauffer JE, Schulte DJ, Ravits J. PMID: 26515626; PMCID: PMC4628785.
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PubMed Mentions:
114 Fields:
Translation:
Humans
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Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS. EMBO J. 2015 Nov 03; 34(21):2633-51.
Emde A, Eitan C, Liou LL, Libby RT, Rivkin N, Magen I, Reichenstein I, Oppenheim H, Eilam R, Silvestroni A, Alajajian B, Ben-Dov IZ, Aebischer J, Savidor A, Levin Y, Sons R, Hammond SM, Ravits JM, Möller T, Hornstein E. PMID: 26330466; PMCID: PMC4641530.
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PubMed Mentions:
105 Fields:
Translation:
HumansAnimalsCells
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Amyotrophic lateral sclerosis: Is the spinal fluid pathway involved in seeding and spread? Med Hypotheses. 2015 Nov; 85(5):576-83.
Smith R, Myers K, Ravits J, Bowser R. PMID: 26220261.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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A revision of the El Escorial criteria - 2015. Amyotroph Lateral Scler Frontotemporal Degener. 2015; 16(5-6):291-2.
Ludolph A, Drory V, Hardiman O, Nakano I, Ravits J, Robberecht W, Shefner J, WFN Research Group On ALS/MND. PMID: 26121170.
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PubMed Mentions:
182 Fields:
Translation:
Humans
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015 Mar 27; 347(6229):1436-41.
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A, FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB. PMID: 25700176; PMCID: PMC4437632.
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PubMed Mentions:
483 Fields:
Translation:
HumansCells
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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. Ann Neurol. 2015 Jan; 77(1):100-13.
Cady J, Allred P, Bali T, Pestronk A, Goate A, Miller TM, Mitra RD, Ravits J, Harms MB, Baloh RH. PMID: 25382069; PMCID: PMC4293318.
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PubMed Mentions:
93 Fields:
Translation:
Humans
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An α2-Na/K ATPase/α-adducin complex in astrocytes triggers non-cell autonomous neurodegeneration. Nat Neurosci. 2014 Dec; 17(12):1710-9.
Gallardo G, Barowski J, Ravits J, Siddique T, Lingrel JB, Robertson J, Steen H, Bonni A. PMID: 25344630; PMCID: PMC4703324.
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PubMed Mentions:
32 Fields:
Translation:
HumansAnimalsCells
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Focality, stochasticity and neuroanatomic propagation in ALS pathogenesis. Exp Neurol. 2014 Dec; 262 Pt B:121-6.
Ravits J. PMID: 25108067.
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PubMed Mentions:
43 Fields:
Translation:
HumansCells
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TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA Neurol. 2014 Apr; 71(4):449-53.
Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB. PMID: 24535663; PMCID: PMC4087113.
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PubMed Mentions:
142 Fields:
Translation:
HumansAnimalsCells
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Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proc Natl Acad Sci U S A. 2014 Jan 14; 111(2):829-32.
Meyer K, Ferraiuolo L, Miranda CJ, Likhite S, McElroy S, Renusch S, Ditsworth D, Lagier-Tourenne C, Smith RA, Ravits J, Burghes AH, Shaw PJ, Cleveland DW, Kolb SJ, Kaspar BK. PMID: 24379375; PMCID: PMC3896192.
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PubMed Mentions:
189 Fields:
Translation:
HumansCells
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Activation of microglial neuregulin1 signaling in the corticospinal tracts of ALS patients with upper motor neuron signs. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar; 15(1-2):77-83.
Song F, Chiang P, Ravits J, Loeb JA. PMID: 24229388.
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PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47):E4530-9.
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW, Ravits J. PMID: 24170860; PMCID: PMC3839752.
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PubMed Mentions:
316 Fields:
Translation:
AnimalsCells
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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med. 2013 Oct 23; 5(208):208ra149.
Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH. PMID: 24154603; PMCID: PMC4090945.
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PubMed Mentions:
381 Fields:
Translation:
HumansCells
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ALS Untangled No. 20: the Deanna protocol. Amyotroph Lateral Scler Frontotemporal Degener. 2013 May; 14(4):319-23.
ALSUntangled Group, Fournier C, Bedlack B, Hardiman O, Heiman-Patterson T, Gutmann L, Bromberg M, Ostrow L, Carter G, Kabashi E, Bertorini T, Mozaffar T, Andersen P, Dietz J, Gamez J, Dimachkie M, Wang Y, Wicks P, Heywood J, Novella S, Rowland LP, Pioro E, Kinsley L, Mitchell K, Glass J, Sathornsumetee S, Kwiecinski H, Baker J, Atassi N, Forshew D, Ravits J, Conwit R, Jackson C, Sherman A, Dalton K, Tindall K, Gonzalez G, Robertson J, Phillips L, Benatar M, Sorenson E, Shoesmith C, Nash S, Maragakis N, Moore D, Caress J, Boylan K, Armon C, Grosso M, Gerecke B, Wymer J, Oskarsson B, Bowser R, Drory V, Shefner J, Lechtzin N, Leitner M, Miller R, Mitsumoto H, Levine T, Russell J, Sharma K, Saperstein D, McClusky L, MacGowan D, Licht J, Verma A, Strong M, Lomen-Hoerth C, Tandan R, Rivner M, Kolb S, Polak M, Rudnicki S, Kittrell P, Quereshi M, Sachs G, Pattee G, Weiss M, Kissel J, Goldstein J, Rothstein J, Pastula D, Gleb L, Ogino M, Rosenfeld J, Carmi E, Oster C, Barkhaus P, Valor E. PMID: 23638638.
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PubMed Mentions:
8 Fields:
Translation:
HumansAnimals
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Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. Amyotroph Lateral Scler Frontotemporal Degener. 2013 May; 14 Suppl 1:5-18.
Ravits J, Appel S, Baloh RH, Barohn R, Brooks BR, Elman L, Floeter MK, Henderson C, Lomen-Hoerth C, Macklis JD, McCluskey L, Mitsumoto H, Przedborski S, Rothstein J, Trojanowski JQ, van den Berg LH, Ringel S. PMID: 23678876; PMCID: PMC3779649.
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PubMed Mentions:
73 Fields:
Translation:
HumansCells
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Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging. 2013 Sep; 34(9):2234.e13-9.
Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH. PMID: 23597494; PMCID: PMC3679344.
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PubMed Mentions:
36 Fields:
Translation:
HumansCells
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Opportunity and innovation in studying pre-symptomatic amyotrophic lateral sclerosis. Muscle Nerve. 2013 May; 47(5):629-31.
Benatar M, Wuu J, Ravits J. PMID: 23494825.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol. 2013 Mar; 12(3):310-22.
Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, Traynor BJ, Van den Berg LH, Veldink JH, Vucic S, Kiernan MC. PMID: 23415570; PMCID: PMC4565161.
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PubMed Mentions:
218 Fields:
Translation:
HumansAnimals
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Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat Neurosci. 2012 Nov; 15(11):1488-97.
Lagier-Tourenne C, Polymenidou M, Hutt KR, Vu AQ, Baughn M, Huelga SC, Clutario KM, Ling SC, Liang TY, Mazur C, Wancewicz E, Kim AS, Watt A, Freier S, Hicks GG, Donohue JP, Shiue L, Bennett CF, Ravits J, Cleveland DW, Yeo GW. PMID: 23023293; PMCID: PMC3586380.
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PubMed Mentions:
403 Fields:
Translation:
HumansAnimalsCells
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Aberrant neuregulin 1 signaling in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol. 2012 Feb; 71(2):104-15.
Song F, Chiang P, Wang J, Ravits J, Loeb JA. PMID: 22249457; PMCID: PMC3270561.
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PubMed Mentions:
30 Fields:
Translation:
HumansAnimalsCells
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TDP-43 and ubiquitinated cytoplasmic aggregates in sporadic ALS are low frequency and widely distributed in the lower motor neuron columns independent of disease spread. Amyotroph Lateral Scler. 2010 May 03; 11(3):321-7.
Bodansky A, Kim JM, Tempest L, Velagapudi A, Libby R, Ravits J. PMID: 20225928; PMCID: PMC4981144.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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No evidence of HIV pol gene in spinal cord tissues in sporadic ALS by real-time RT-PCR. Amyotroph Lateral Scler. 2010; 11(1-2):91-6.
Kim YJ, Fan Y, Laurie P, Kim JM, Ravits J. PMID: 19322704.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology. Hum Mol Genet. 2010 Jan 15; 19(2):313-28.
Rabin SJ, Kim JM, Baughn M, Libby RT, Kim YJ, Fan Y, Libby RT, La Spada A, Stone B, Ravits J. PMID: 19864493; PMCID: PMC2796893.
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PubMed Mentions:
67 Fields:
Translation:
HumansAnimalsCells
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ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration. Neurology. 2009 Sep 08; 73(10):805-11.
Ravits JM, La Spada AR. PMID: 19738176; PMCID: PMC2739608.
View in:
PubMed Mentions:
227 Fields:
Translation:
HumansAnimalsCells
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Current and future directions in genomics of amyotrophic lateral sclerosis. Phys Med Rehabil Clin N Am. 2008 Aug; 19(3):461-77, viii.
Ravits J, Traynor BJ. PMID: 18625410; PMCID: PMC3524513.
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2 Fields:
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HumansAnimals
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An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology. J Neurosci. 2008 Feb 20; 28(8):1833-40.
Xiao S, Tjostheim S, Sanelli T, McLean JR, Horne P, Fan Y, Ravits J, Strong MJ, Robertson J. PMID: 18287500; PMCID: PMC6671437.
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25 Fields:
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HumansCells
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Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial. Lancet Neurol. 2007 Dec; 6(12):1045-53.
Gordon PH, Moore DH, Miller RG, Florence JM, Verheijde JL, Doorish C, Hilton JF, Spitalny GM, MacArthur RB, Mitsumoto H, Neville HE, Boylan K, Mozaffar T, Belsh JM, Ravits J, Bedlack RS, Graves MC, McCluskey LF, Barohn RJ, Tandan R, Western ALS Study Group. PMID: 17980667.
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241 Fields:
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HumansCTClinical Trials
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Implications of ALS focality: rostral-caudal distribution of lower motor neuron loss postmortem. Neurology. 2007 May 08; 68(19):1576-82.
Ravits J, Laurie P, Fan Y, Moore DH. PMID: 17485644.
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62 Fields:
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HumansCells
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Focality of upper and lower motor neuron degeneration at the clinical onset of ALS. Neurology. 2007 May 08; 68(19):1571-5.
Ravits J, Paul P, Jorg C. PMID: 17485643.
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128 Fields:
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HumansCells
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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol. 2007 May; 61(5):427-34.
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ. PMID: 17469116.
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431 Fields:
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Humans
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A4V superoxide dismutase mutation in apparently sporadic ALS resembling neuralgic amyotrophy. Amyotroph Lateral Scler. 2006 Mar; 7(1):61-3.
Weiss MD, Ravits JM, Schuman N, Carter GT. PMID: 16546761.
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3 Fields:
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Humans
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Amyotrophic lateral sclerosis microgenomics. Phys Med Rehabil Clin N Am. 2005 Nov; 16(4):909-24, viii.
Ravits J, Laurie P, Stone B. PMID: 16214051.
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2 Fields:
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HumansCells
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Sporadic amyotrophic lateral sclerosis: a hypothesis of persistent (non-lytic) enteroviral infection. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Jun; 6(2):77-87.
Ravits J. PMID: 16036430.
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12 Fields:
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HumansAnimalsCells
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Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun; 4(2):62-73.
Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH. PMID: 14506936.
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82 Fields:
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Humans
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Phase III randomized trial of gabapentin in patients with amyotrophic lateral sclerosis. Neurology. 2001 Apr 10; 56(7):843-8.
Miller RG, Moore DH, Gelinas DF, Dronsky V, Mendoza M, Barohn RJ, Bryan W, Ravits J, Yuen E, Neville H, Ringel S, Bromberg M, Petajan J, Amato AA, Jackson C, Johnson W, Mandler R, Bosch P, Smith B, Graves M, Ross M, Sorenson EJ, Kelkar P, Parry G, Olney R, Western ALS Study Group. PMID: 11294919.
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35 Fields:
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HumansCTClinical Trials
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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology. 2000 Aug 22; 55(4):569-72.
Fernandez M, McClain ME, Martinez RA, Snow K, Lipe H, Ravits J, Bird TD, La Spada AR. PMID: 10953195.
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27 Fields:
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HumansCells
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Recent advances in the treatment of neuropathies. West J Med. 1998 Apr; 168(4):268-9.
Ravits J. PMID: 9584672; PMCID: PMC1304959.
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Humans
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AAEM minimonograph #48: autonomic nervous system testing. Muscle Nerve. 1997 Aug; 20(8):919-37.
Ravits JM. PMID: 9236782.
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30 Fields:
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Humans
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Placebo-controlled trial of gabapentin in patients with amyotrophic lateral sclerosis. WALS Study Group. Western Amyotrophic Lateral Sclerosis Study Group. Neurology. 1996 Dec; 47(6):1383-8.
Miller RG, Moore D, Young LA, Armon C, Barohn RJ, Bromberg MB, Bryan WW, Gelinas DF, Mendoza MC, Neville HE, Parry GJ, Petajan JH, Ravits JM, Ringel SP, Ross MA. PMID: 8960715.
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21 Fields:
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HumansCTClinical Trials
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Electrophysiological tests of autonomic function in patients with idiopathic autonomic failure syndromes. Muscle Nerve. 1996 Jun; 19(6):758-63.
Ravits J, Hallett M, Nilsson J, Polinsky R, Dambrosia J. PMID: 8609927.
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6 Fields:
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Humans
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Myasthenic (Eaton-Lambert) syndrome associated with pulmonary large-cell neuroendocrine carcinoma. South Med J. 1994 Nov; 87(11):1186-9.
Demirer T, Ravits J, Aboulafia D. PMID: 7973914.
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2 Fields:
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Humans
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A double-blind trial of isoniazid for essential tremor and other action tremors. Mov Disord. 1991; 6(3):253-6.
Hallett M, Ravits J, Dubinsky RM, Gillespie MM, Moinfar A. PMID: 1681430.
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PubMed Mentions:
8 Fields:
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HumansCTClinical Trials
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Clinical and electromyographic studies of postpoliomyelitis muscular atrophy. Muscle Nerve. 1990 Aug; 13(8):667-74.
Ravits J, Hallett M, Baker M, Nilsson J, Dalakas M. PMID: 2385251.
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PubMed Mentions:
4 Fields:
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Humans
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Botulinum toxin therapy in hemifacial spasm: clinical and electrophysiologic studies. Muscle Nerve. 1989 Sep; 12(9):716-22.
Geller BD, Hallett M, Ravits J. PMID: 2630907.
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4 Fields:
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HumansCells
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Stimulus artifact compensation using biphasic stimulation. Muscle Nerve. 1988 Jun; 11(6):597-602.
Nilsson J, Ravits J, Hallett M. PMID: 3386668.
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3 Fields:
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Humans
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Myasthenia gravis. A well-understood neuromuscular disorder. Postgrad Med. 1988 Jan; 83(1):219-23.
Ravits J. PMID: 3336605.
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1 Fields:
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Humans
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A long-term follow-up study of patients with post-poliomyelitis neuromuscular symptoms. N Engl J Med. 1986 Apr 10; 314(15):959-63.
Dalakas MC, Elder G, Hallett M, Ravits J, Baker M, Papadopoulos N, Albrecht P, Sever J. PMID: 3007983.
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46 Fields:
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HumansCells
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Pathophysiology of hemifacial spasm. Neurology. 1986 Apr; 36(4):591-3.
Ravits J, Hallett M. PMID: 3008029.
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PubMed Mentions:
1 Fields:
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HumansCells
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Primary writing tremor and myoclonic writer's cramp. Neurology. 1985 Sep; 35(9):1387-91.
Ravits J, Hallett M, Baker M, Wilkins D. PMID: 4022390.
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PubMed Mentions:
5 Fields:
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Humans
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Transient monocular visual loss from narrow-angle glaucoma. Arch Neurol. 1984 Sep; 41(9):991-3.
Ravits J, Seybold ME. PMID: 6477235.
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PubMed Mentions:
1 Fields:
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Humans
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No morphometric abnormality recurrent laryngeal nerve in spastic dysphonia. Neurology. 1979 Oct; 29(10):1376-82.
Ravits JM, Aronson AE, DeSanto LW, Dyck PJ. PMID: 573382.
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PubMed Mentions:
2 Fields:
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HumansCells
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Prostatic adenocarcinoma of ductal origin. J Urol. 1979 Mar; 121(3):303-5.
Greene LF, Farrow GM, Ravits JM, Tomera FM. PMID: 219263.
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PubMed Mentions:
13 Fields:
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Humans