-
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews. Ther Adv Chronic Dis. 2025; 16:20406223251344763.
McCormick EM, Peterson JT, Santos JDD, Flickinger J, Xiao R, Haas R, Zolkipli-Cunningham Z. PMID: 40735368; PMCID: PMC12304646.
View in:
PubMed Mentions:
-
HPDL Variant Type Correlates With Clinical Disease Onset and Severity. Ann Clin Transl Neurol. 2025 Jul; 12(7):1360-1367.
Lee EH, Kim-Mcmanus O, Yang JH, Haas R, Zaki MS, Abdel-Salam GMH, Nakamura Y, Abdel-Hamind MS, Ebrahimi-Fakhari D, Alecu JE, Brunetti-Pierri N, Srinivasan VM, Gowda VK, Gross S, Alanay Y, Najarzadeh Totbati P, Yadavilli M, Friedman L, Ojeda NM, Gleeson JG. PMID: 40368591; PMCID: PMC12257120.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet J Rare Dis. 2024 Nov 21; 19(1):431.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M, MMPOWER-3 Trial Investigators
. PMID: 39574155; PMCID: PMC11583740.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCTClinical Trials
-
Seizures after initiation of rewarming in cooled infants with hypoxic ischaemic encephalopathy. Pediatr Res. 2024 Feb; 95(3):752-757.
Battin MR, Davis SL, Gardner M, Joe P, Rasmussen M, Haas R, Sharpe C. PMID: 37914821.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. 2023 07 18; 101(3):e238-e252.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M, MMPOWER-3 Trial Investigators. PMID: 37268435; PMCID: PMC10382259.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansCTClinical Trials
-
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022 06; 136(2):125-131.
Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, Cohen BH, Van Hove JLK, Scaglia F, Hoppel C, Rosales XQ, Barca E, Buchsbaum R, Thompson JL, DiMauro S, Hirano M, North American Mitochondrial Disease Consortium (NAMDC). PMID: 35606253; PMCID: PMC9341219.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Mol Genet Genomic Med. 2022 05; 10(5):e1917.
Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. PMID: 35318820; PMCID: PMC9034674.
View in:
PubMed Mentions:
10 Fields:
Translation:
Humans
-
Optical Flow Estimation Improves Automated Seizure Detection in Neonatal EEG. J Clin Neurophysiol. 2022 Mar 01; 39(3):235-239.
Martin JR, Gabriel PG, Gold JJ, Haas R, Davis SL, Gonda DD, Sharpe C, Wilson SB, Nierenberg NC, Scheuer ML, Wang SG. PMID: 32810002; PMCID: PMC7887141.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
-
Mitochondrial dysfunction associated with TANGO2 deficiency. Sci Rep. 2022 02 23; 12(1):3045.
Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L. PMID: 35197517; PMCID: PMC8866466.
View in:
PubMed Mentions:
22 Fields:
Translation:
HumansCells
-
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 03; 43(3):305-315.
Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K, Wigby K. PMID: 35026043; PMCID: PMC8863643.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures. JAMA Neurol. 2022 01 01; 79(1):90-91.
Crawford J, Gold J, Haas R. PMID: 34779830.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Development of a Mitochondrial Myopathy-Composite Assessment Tool. JCSM Clin Rep. 2021 Oct; 6(4):109-127.
Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku CC, Glanzman AM, Ballance E, Leonhardt K, McCormick EM, Soreth B, Nguyen S, Gornish J, George-Sankoh I, Peterson J, MacMullen LE, Vishnubhatt S, McBride M, Haas R, Falk MJ, Xiao R, Zolkipli-Cunningham Z. PMID: 35071983; PMCID: PMC8782422.
View in:
PubMed Mentions:
7
-
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. Mol Genet Genomic Med. 2021 07; 9(7):e1623.
Friedman J, Bird LM, Haas R, Robbins SL, Nahas SA, Dimmock DP, Yousefzadeh MJ, Witt MA, Niedernhofer LJ, Chowdhury S. PMID: 34076366; PMCID: PMC8372079.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review. Ann Clin Transl Neurol. 2021 01; 8(1):284-287.
Frederick A, Sherer K, Nguyen L, Ali S, Garg A, Haas R, Sahagian M, Bui J. PMID: 33249780; PMCID: PMC7818142.
View in:
PubMed Mentions:
9 Fields:
Translation:
Humans
-
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. Am J Intellect Dev Disabil. 2020 11 01; 125(6):493-509.
Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL. PMID: 33211820; PMCID: PMC7778880.
View in:
PubMed Mentions:
23 Fields:
Translation:
Humans
-
Does the first hour of continuous electroencephalography predict neonatal seizures? Arch Dis Child Fetal Neonatal Ed. 2021 Mar; 106(2):162-167.
Macdonald-Laurs E, Sharpe C, Nespeca M, Rismanchi N, Gold JJ, Kuperman R, Wang S, Lee NMD, Michelson DJ, Haas R, Reed P, Davis SL. PMID: 32928896.
View in:
PubMed Mentions:
7 Fields:
Translation:
HumansCTClinical Trials
-
Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet. 2020 Apr; 6(2):e402.
Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. PMID: 32337332; PMCID: PMC7164977.
View in:
PubMed Mentions:
36
-
A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy. J Cachexia Sarcopenia Muscle. 2020 08; 11(4):909-918.
Karaa A, Haas R, Goldstein A, Vockley J, Cohen BH. PMID: 32096613; PMCID: PMC7432581.
View in:
PubMed Mentions:
35 Fields:
Translation:
Humans
-
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. Parkinsonism Relat Disord. 2019 11; 68:8-16.
Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. PMID: 31621627.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Mitochondrial Dysfunction in Aging and Diseases of Aging. Biology (Basel). 2019 Jun 17; 8(2).
Haas RH. PMID: 31213034; PMCID: PMC6627182.
View in:
PubMed Mentions:
88
-
CoQ10 and Aging. Biology (Basel). 2019 May 11; 8(2).
Barcelos IP, Haas RH. PMID: 31083534; PMCID: PMC6627360.
View in:
PubMed Mentions:
54
-
Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography Monitoring. J Clin Neurophysiol. 2019 Jan; 36(1):9-13.
Sharpe C, Davis SL, Reiner GE, Lee LI, Gold JJ, Nespeca M, Wang SG, Joe P, Kuperman R, Gardner M, Honold J, Lane B, Knodel E, Rowe D, Battin MR, Bridge R, Goodmar J, Castro B, Rasmussen M, Arnell K, Harbert M, Haas R. PMID: 30289769; PMCID: PMC6320287.
View in:
PubMed Mentions:
13 Fields:
Translation:
Humans
-
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. Neurology. 2018 04 03; 90(14):e1212-e1221.
Karaa A, Haas R, Goldstein A, Vockley J, Weaver WD, Cohen BH. PMID: 29500292; PMCID: PMC5890606.
View in:
PubMed Mentions:
70 Fields:
Translation:
HumansCTClinical Trials
-
Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184.
Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. PMID: 27312126.
View in:
PubMed Mentions:
27 Fields:
Translation:
Humans
-
A randomized clinical trial of high-dosage coenzyme Q10 in early Parkinson disease: no evidence of benefit. JAMA Neurol. 2014 May; 71(5):543-52.
Parkinson Study Group QE3 Investigators, Beal MF, Oakes D, Shoulson I, Henchcliffe C, Galpern WR, Haas R, Juncos JL, Nutt JG, Voss TS, Ravina B, Shults CM, Helles K, Snively V, Lew MF, Griebner B, Watts A, Gao S, Pourcher E, Bond L, Kompoliti K, Agarwal P, Sia C, Jog M, Cole L, Sultana M, Kurlan R, Richard I, Deeley C, Waters CH, Figueroa A, Arkun A, Brodsky M, Ondo WG, Hunter CB, Jimenez-Shahed J, Palao A, Miyasaki JM, So J, Tetrud J, Reys L, Smith K, Singer C, Blenke A, Russell DS, Cotto C, Friedman JH, Lannon M, Zhang L, Drasby E, Kumar R, Subramanian T, Ford DS, Grimes DA, Cote D, Conway J, Siderowf AD, Evatt ML, Sommerfeld B, Lieberman AN, Okun MS, Rodriguez RL, Merritt S, Swartz CL, Martin WR, King P, Stover N, Guthrie S, Watts RL, Ahmed A, Fernandez HH, Winters A, Mari Z, Dawson TM, Dunlop B, Feigin AS, Shannon B, Nirenberg MJ, Ogg M, Ellias SA, Thomas CA, Frei K, Bodis-Wollner I, Glazman S, Mayer T, Hauser RA, Pahwa R, Langhammer A, Ranawaya R, Derwent L, Sethi KD, Farrow B, Prakash R, Litvan I, Robinson A, Sahay A, Gartner M, Hinson VK, Markind S, Pelikan M, Perlmutter JS, Hartlein J, Molho E, Evans S, Adler CH, Duffy A, Lind M, Elmer L, Davis K, Spears J, Wilson S, Leehey MA, Hermanowicz N, Niswonger S, Shill HA, Obradov S, Rajput A, Cowper M, Lessig S, Song D, Fontaine D, Zadikoff C, Williams K, Blindauer KA, Bergholte J, Propsom CS, Stacy MA, Field J, Mihaila D, Chilton M, Uc EY, Sieren J, Simon DK, Kraics L, Silver A, Boyd JT, Hamill RW, Ingvoldstad C, Young J, Thomas K, Kostyk SK, Wojcieszek J, Pfeiffer RF, Panisset M, Beland M, Reich SG, Cines M, Zappala N, Rivest J, Zweig R, Lumina LP, Hilliard CL, Grill S, Kellermann M, Tuite P, Rolandelli S, Kang UJ, Young J, Rao J, Cook MM, Severt L, Boyar K. PMID: 24664227.
View in:
PubMed Mentions:
170 Fields:
Translation:
HumansCTClinical Trials
-
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Neuromuscul Disord. 2014 Apr; 24(4):312-20.
Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM. PMID: 24491487; PMCID: PMC3959257.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
-
Assessing bioenergetic compromise in autism spectrum disorder with 31P magnetic resonance spectroscopy: preliminary report. J Child Neurol. 2014 Feb; 29(2):187-93.
Golomb BA, Erickson LC, Scott-Van Zeeland AA, Koperski S, Haas RH, Wallace DC, Naviaux RK, Lincoln AJ, Reiner GE, Hamilton G. PMID: 24141271; PMCID: PMC3931549.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. PMID: 23891656.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. PLoS One. 2013; 8(7):e69282.
Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ. PMID: 23894440; PMCID: PMC3722174.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansCells
-
Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions. FASEB J. 2012 Dec; 26(12):4914-24.
Zhang C, Huang VH, Simon M, Sharma LK, Fan W, Haas R, Wallace DC, Bai Y, Huang T. PMID: 22925728; PMCID: PMC6137447.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta. 2012 Oct; 1817(10):1796-802.
Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. PMID: 22538295; PMCID: PMC3423964.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansCellsCTClinical Trials
-
Effects of endotracheal intubation and surfactant on a 3-channel neonatal electroencephalogram. J Pediatr. 2012 Aug; 161(2):252-7.
Shangle CE, Haas RH, Vaida F, Rich WD, Finer NN. PMID: 22424942; PMCID: PMC6394405.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
Autism and mitochondrial disease. Dev Disabil Res Rev. 2010; 16(2):144-53.
Haas RH. PMID: 20818729.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansCells
-
A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov; 11(6):414-30.
Parikh S, Saneto R, Falk MJ, Anselm I, Cohen BH, Haas R, Medicine Society TM. PMID: 19891905; PMCID: PMC3561461.
View in:
PubMed Mentions:
149
-
Statin myopathy as a metabolic muscle disease. Expert Rev Cardiovasc Ther. 2008 Aug; 6(7):971-8.
Phillips PS, Haas RH. PMID: 18666847.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells. Antimicrob Agents Chemother. 2008 Aug; 52(8):2825-30.
Saitoh A, Haas RH, Naviaux RK, Salva NG, Wong JK, Spector SA. PMID: 18541728; PMCID: PMC2493104.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
-
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008 May; 94(1):16-37.
Mitochondrial Medicine Society's Committee on Diagnosis, Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. PMID: 18243024; PMCID: PMC2810849.
View in:
PubMed Mentions:
149 Fields:
Translation:
HumansCells
-
Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation. J Mol Diagn. 2008 Jan; 10(1):102-8.
Lim KS, Naviaux RK, Wong S, Haas RH. PMID: 18165269; PMCID: PMC2175549.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Mitochondrial disease: a practical approach for primary care physicians. Pediatrics. 2007 Dec; 120(6):1326-33.
Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH. PMID: 18055683.
View in:
PubMed Mentions:
111 Fields:
Translation:
Humans
-
Abnormalities on the neurological examination and EEG in young children with pervasive developmental disorders. J Autism Dev Disord. 2007 May; 37(5):887-93.
Akshoomoff N, Farid N, Courchesne E, Haas R. PMID: 17048091; PMCID: PMC2094050.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
-
Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Clin Chem. 2007 Jun; 53(6):1046-52.
Lim KS, Naviaux RK, Haas RH. PMID: 17446331.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease. Mitochondrion. 2007 Jun; 7 Suppl:S136-45.
Haas RH. PMID: 17485245.
View in:
PubMed Mentions:
38 Fields:
Translation:
HumansAnimalsCells
-
Clinical trials of coenzyme Q10 in neurological disorders. Biofactors. 2005; 25(1-4):117-26.
Shults CW, Haas R. PMID: 16873936.
View in:
PubMed Mentions:
27 Fields:
Translation:
Humans
-
Neuroimaging of mitochondrial disorders. Mitochondrion. 2004 Sep; 4(5-6):471-90.
Haas R, Dietrich R. PMID: 16120407.
View in:
PubMed Mentions:
12 Fields:
-
Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49.
Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. PMID: 15464428.
View in:
PubMed Mentions:
30 Fields:
Translation:
HumansCTClinical Trials
-
Measuring the effects of therapy in Parkinson disease. JAMA. 2004 May 26; 291(20):2430-1; author reply 2431.
Shults CW, Haas R, Oakes D, Kieburtz K, Plumb S, Shoulson I, Beal MF, Juncos J, Nutt J. PMID: 15161889.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4.
McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. PMID: 15096407.
View in:
PubMed Mentions:
9 Fields:
Translation:
Humans
-
Statin-associated myopathy with normal creatine kinase levels. Ann Intern Med. 2002 Oct 01; 137(7):581-5.
Phillips PS, Haas RH, Bannykh S, Hathaway S, Gray NL, Kimura BJ, Vladutiu GD, England JD, Scripps Mercy Clinical Research Center. PMID: 12353945.
View in:
PubMed Mentions:
138 Fields:
Translation:
HumansCTClinical Trials
-
Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional decline. Arch Neurol. 2002 Oct; 59(10):1541-50.
Shults CW, Oakes D, Kieburtz K, Beal MF, Haas R, Plumb S, Juncos JL, Nutt J, Shoulson I, Carter J, Kompoliti K, Perlmutter JS, Reich S, Stern M, Watts RL, Kurlan R, Molho E, Harrison M, Lew M, Parkinson Study Group. PMID: 12374491.
View in:
PubMed Mentions:
256 Fields:
Translation:
HumansCTClinical Trials
-
Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9.
Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. PMID: 12359142.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug; 111(2):179-89.
Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. PMID: 12189492.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells