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Office
MGH Simches Reserch Building, 5-238
185 Cambridge St.
Boston, MA 02114Phone+1 617-726-5718Fax+1 617-724-9620- Is this information wrong?
Education & Training
- Brigham and Women's Hospital/Massachusetts General Hospital/Harvard Medical SchoolResidency, Neurology, 1982 - 1986
- Massachusetts General HospitalResidency, Pediatrics, 1979 - 1981
- Columbia University Vagelos College of Physicians and SurgeonsClass of 1979
Certifications & Licensure
- MA State Medical License 1980 - 2017
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- Open-Label Phase 3 Long-Term Safety Study of Migalastat Start of enrollment: 2011 Oct 14
- North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Start of enrollment: 2010 Dec 01
- Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Start of enrollment: 2012 Aug 01
Publications & Presentations
PubMed
- A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment.Ruzica Kravljanac, Katherine B. Sims> ;Neurocase. 2021 Apr 14
- 357 citationsGenome-wide Analyses Identify KIF5A as a Novel ALS Gene.Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Ri...> ;Neuron. 2018 Mar 21
- 29 citationsIdentification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.Martin S. Maron, Winnie Xin, Katherine B. Sims, Rita Butler, Tammy S. Haas, Ethan J. Rowin, Robert J. Desnick, Barry J. Maron> ;The American Journal of Medicine. 2017 Sep 1
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Press Mentions
- Drug- or Vaccine-Induced Dementias Are NOT Alzheimer’s (But They Are Iatrogenic)February 8th, 2018
- Drug-Induced Dementia Isn’t Alzheimer’sFebruary 26th, 2015
- MGH Hosts Norrie Disease ConferenceAugust 17th, 2012
Grant Support
- Clinical Trial: Aglu02704: Late-Onset Pompe Disease Treatment StudyNational Center For Research Resources2008
- Aglu02704: Late-Onset Pompe Disease Treatment StudyNational Center For Research Resources2007
- Core--PatientsNational Institute Of Neurological Disorders And Stroke2001–2002
- ND Gene In Retinal Dysplasia And Cell DeathNational Eye Institute1995–1999
- Molecular Genetic Study Of Norrie DiseaseEunice Kennedy Shriver National Institute Of Child Health &Human Development1989–1991
- Molecular Genetic Study Of Chromosome 21 Gene ExpressionEunice Kennedy Shriver National Institute Of Child Health &Human Development1987–1989
Hospital Affiliations
- University Hospitals Cleveland Medical CenterCleveland, Ohio
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