A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Muscle Carnitine Deficiency in Patients Using Valproic Acid
J Pediatr 118:646-649, Shapira,Y.&Gutman,A., 1991
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988
Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988
Nearly Fatal Muscle Carnitine Deficiency with Full Recovery after Replacement Therapy
Neurol 33:1629-1631, Prockop,L.D.,et al, 1983
Lipid Storage Myopathy:Successful Treatment with Propranolol
BMJ 282:1997-1999, Martyn,C.,et al, 1981
Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981
Carnitine Deficiency Acute Postpartum Crisis
Ann Neurol 4:558-561, Angelini,C.,et al, 1978
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 971, Ropper, A.H.,et al, 2014
Anti-HMGCR Autoantibodies in European Patients with Autoimmune Necrotizing Myopathies
Medicine 93:150-157, Allenbach, Y.,et al, 2014
Mystery Case: A 63-year-old Man with Progressive Proximal Pain and Weakness
Neurol 82:e26-e29, Scripko, P.D.,et al, 2014
The Spectrum of Statin Myopathy
Curr Opin Rheumatol 25:747-752, Mohassel, P. & Mammen, A.L., 2013
Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
NEJM 36:944-954, Case 7-2012, 2012
Weighing the Benefits of High-Dose Simvastatin against the Risk of Myopathy
NEJM 365:285-287, Egan, A.,et al, 2011
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Neuromuscular Symptoms and Elevated Creatine Kinase After Statin Withdrawal
NEJM 362:564-565, Echaniz-Laguna,A.,et al, 2010
Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
Lancet 374:1986-1996, 1950, Mehta,A.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Toxic and Drug-Induced Myopathies
JNNP 80:832-838, Dalakas,M.C., 2009
SLC01B1 Variants and Statin-Induced Myopathy -- A Genomewide Study
NEJM 359:789-799, The SEARCH Collaborative Group, 2008
Statin Induced Myopathy
BMJ 337:1159-1162, Sathasivam,S. &Lecky,B., 2008
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Rhabdomyolysis: An Evaluation of 475 Hospitalized Patients
Medicine 84:377-385, Melli,G.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Incidence of Hospitalized Rhabdomyloysis in Patients Treated With Lipid-Lowering Drugs
JAMA 292:2585-2590, Graham,D.J.,et al, 2004
Statin-Associated Myopathy
JAMA 289:1681-1690, Thompson,P.D.,et al, 2003