SLC01B1 Variants and Statin-Induced Myopathy -- A Genomewide Study
NEJM 359:789-799, The SEARCH Collaborative Group, 2008
Severe Myotonic Crisis Resembling Malignant Hyperthermia
Neurol 104:e213497, Wadhwani,A.R.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Proton Pump Inhibitor and Histamine 2 Receptor Antagonist Use and Vitamin B12 Deficiency
JAMA 310:2435-2442, Lam, J.R.,et al, 2013
Parkinsons Disease
Lancet 373:2055-2066, Lees,A.J.,et al, 2009
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Symptoms of B12 Deficiency Can Occur in Women of Child Bearing Age Supplemented with Folate
Neurol 58:1572-1573, Drazkowski,J.,et al, 2002
Treatment of Attention-Deficit-Hyperactivity Disorder
NEJM 340:780-788, Elia,J.,et al, 1999
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988