Dr. Fischbeck is on Doximity
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Office
2422 Pine St
Philadelphia, PA 19103Phone+1 301-385-3066
Summary
- Dr. Fischbeck retired from the NIH in Jan 2024, and he is no longer seeing patients.
Education & Training
University of California (San Francisco)Residency, Neurology, 1977 - 1980
Case Western Reserve University/University Hospitals Cleveland Medical CenterInternship, Internal Medicine, 1976 - 1977
Johns Hopkins University School of MedicineClass of 1976
Certifications & Licensure
PA State Medical License 1981 - 2021- American Board of Psychiatry and Neurology Neurology
Awards, Honors, & Recognition
- Elected Member Institute of Medicine, 1999
Clinical Trials
- Study of Inherited Neurological Disorders Start of enrollment: 2000 Feb 18
- Measuring Levels of SMN in Blood Samples of SMA Patients Start of enrollment: 2003 May 19
- Idebenone to Treat Friedreich's Ataxia Start of enrollment: 2005 Sep 27
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Publications & Presentations
PubMed
- 264 citationsThe peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.Linda J. Valentijn, Pieter A. Bolhuis, I. Zorn, Jessica E. Hoogendijk, N H van den Bosch
Nature Genetics. 1992-06-01 - 820 citationsConnexin mutations in X-linked Charcot-Marie-Tooth disease.J Bergoffen, Steven S. Scherer, S. Wang, MO Scott, Linda Jo Bone
Science. 1993-12-24 - 276 citationsInactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulationMireille Cossée, Hélène Puccio, Anne Gansmuller, Hana Koutnikova, Andrée Dierich
Human Molecular Genetics. 2000-05-01
Press Mentions
Inside the Bungled FDA Approval of a Once-Hyped ALS DrugNovember 23rd, 2022- Why I Voted 'No' on the New ALS DrugOctober 13th, 2022
- Relyvrio: ALS Drug Gets FDA Approval Despite Uncertainty About Its EffectivenessOctober 1st, 2022
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Grant Support
- Studies Of Hereditary Neurological Disease: Disease MechanismsNational Institute Of Neurological Disorders And Stroke2009–2011
- Studies Of Hereditary Neurological Disease: Disease Gene IdentificationNational Institute Of Neurological Disorders And Stroke2009–2011
- Studies Of Hereditary Neurological Disease: Clinical TrialsNational Institute Of Neurological Disorders And Stroke2009–2011
- Studies Of Hereditary Neurological Disease: Disease MechanismsNational Institute Of Neurological Disorders And Stroke2007–2008
- Studies Of Hereditary Neurological Disease: Disease Gene IdentificationNational Institute Of Neurological Disorders And Stroke2007–2008
- Studies Of Hereditary Neurological Disease: Clinical TrialsNational Institute Of Neurological Disorders And Stroke2007–2008
- Studies Of Hereditary Neurological DiseaseNational Institute Of Neurological Disorders And Stroke1999–2006
- Polyglutamine Neurotoxicity In SBMANational Institute Of Neurological Disorders And Stroke1998
- X Linked Spinal And Bulbar Muscular AtrophyNational Institute Of Neurological Disorders And Stroke1994–1997
- Xcen-Xq21.3 In Overlapping Yeast Artificial ChromosomesNational Human Genome Research Institute1993
- Freeze Fracture Models Of Duchenne Muscular DystrophyNational Institute Of Neurological Disorders And Stroke1985–1986
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