Jennifer Friedman

Title(s)	Clinical Professor, Neurosciences
School	Vc-health Sciences-schools
Address	9500 Gilman Drive # La Jolla CA 92093
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Bibliographic

Publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.

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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.

ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. PMID: 37185208; PMCID: PMC10579487.

View in: PubMed Mentions: 2 Fields:
Gen Genetics
Translation:Humans
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022; 10:783762. Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. PMID: 35295849; PMCID: PMC8918504.

View in: PubMed Mentions: 7
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome. Pediatr Neurol. 2018 09; 86:69-70. Chen DY, Chowdhury S, Farnaes L, Friedman JR, Honold J, Dimmock DP, Gold OBOTRIJJ. PMID: 30107960; PMCID: PMC6824418.

View in: PubMed Mentions: 11 Fields:
Neu Neurology Ped Pediatrics
Translation:Humans
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 11 28; 89(22):2297-2298. Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. PMID: 29093066; PMCID: PMC5705245.

View in: PubMed Mentions: 11 Fields:
Neu Neurology
Translation:Humans
Low CSF 5-HIAA in Myoclonus Dystonia. Mov Disord. 2017 11; 32(11):1647-1649. Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA. PMID: 28949039; PMCID: PMC5796435.

View in: PubMed Mentions: 1 Fields:
Neu Neurology
Translation:Humans
ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity. Mov Disord. 2017 02; 32(2):305-306. Raskind WH, Friedman JR, Roze E, Méneret A, Chen DH, Bird TD. PMID: 27933653; PMCID: PMC5318268.

View in: PubMed Mentions: 2 Fields:
Neu Neurology
Translation:Humans
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. Pediatr Neurol. 2016 06; 59:76-80. Friedman JR. PMID: 27080360.

View in: PubMed Mentions: 3 Fields:
Neu Neurology Ped Pediatrics
Translation:Humans
Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32. Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. PMID: 26810587; PMCID: PMC4841021.

View in: PubMed Mentions: 22 Fields:
Mol Molecular Biology
Translation:Humans
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord. 2016 Jan; 31(1):147-8. Friedman JR, Méneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E. PMID: 26686870; PMCID: PMC4724296.

View in: PubMed Mentions: 21 Fields:
Neu Neurology
Translation:Humans
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 08; 85(23):2026-35. Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. PMID: 26537056; PMCID: PMC4676753.

View in: PubMed Mentions: 50 Fields:
Neu Neurology
Translation:Humans
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016 May; 24(5):652-9. Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. PMID: 26306646; PMCID: PMC4930086.

View in: PubMed Mentions: 47 Fields:
Gen Genetics
Translation:Humans Cells
A genome sequencing program for novel undiagnosed diseases. Genet Med. 2015 Dec; 17(12):995-1001. Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A. PMID: 25790160; PMCID: PMC4575596.

View in: PubMed Mentions: 16 Fields:
Gen Genetics
Translation:Humans
De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct; 76(4):529-540. Torkamani A, Bersell K, Jorge BS, Bjork RL, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL, Kearney JA. PMID: 25164438; PMCID: PMC4192091.

View in: PubMed Mentions: 60 Fields:
Neu Neurology
Translation:Humans Animals Cells
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr; 75(4):542-9. Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. PMID: 24700542; PMCID: PMC4457323.

View in: PubMed Mentions: 55 Fields:
Neu Neurology
Translation:Humans Cells
An unusual presentation of posterior fossa ependymoma in a child. BMJ Case Rep. 2013 Jul 05; 2013. Crawford JR, Newbury RO, Friedman JR. PMID: 23833093; PMCID: PMC3736280.

View in: PubMed Mentions: Fields:
Med Medicine (General)
Translation:Humans
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006 Feb; 21(2):241-5. Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR. PMID: 16149086.

View in: PubMed Mentions: 22 Fields:
Neu Neurology
Translation:Humans Cells
Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and other mitochondrial syndromes. Coron Artery Dis. 2003 May; 14(3):197-205. Tawakol A, Sims K, MacRae C, Friedman JR, Alpert NM, Fischman AJ, Gewirtz H. PMID: 12702922.

View in: PubMed Mentions: 3 Fields:
Car Cardiology Vas Vascular Diseases
Translation:Humans Cells
The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology. 2000 Nov 14; 55(9):1417-8. Friedman JR, Klein C, Leung J, Woodward H, Ozelius LJ, Breakefield XO, Charness ME. PMID: 11087801.

View in: PubMed Mentions: 4 Fields:
Neu Neurology
Translation:Humans