Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Botulism
Adams & Victors Principles of Neurology Chp 43, pg 1218, Ropper, A.H.,et al, 2014
Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
Acta Neurol Taiwan 17:177-183, Shen, F.,et al, 2008
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
A Poliomyelitis-like Syndrome from West Nile Virus Infection
NEJM 347:1279-1280, Leis,A.A., et al, 2002
Nonpoliovirus Poliomyelitis Simulating Guillain-Barre Syndrome
Arch Neurol 58:1460-1464, Gorson,K.C.&Ropper,A.H., 2001
Clinicopath Conf,Guillain-Barre Syndrome, Campylobacter Jejuni Enteritis,Case 39-1999
NEJM 341:1996-2003, , 1999
Adult Botulism
Muscle & Nerve, 20:100-10297., Shapiro,B.E.,et al, 1997
Clinicopath Conf
Botulism, Case 22-1997, NEJM 337:184-190997., , 1997
Acute Corticosteroid Myopathy in Intensive Care Patients
Muscle & Nerve 20:1371-1380997., Hanson,P.,et al, 1997
Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Multifocal Motor Neuropathy
JNNP 60:599-603, Nobile-Orazio,E., 1996
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Prolonged Paralysis Due to Nondepolarizing Neuromuscular Blocking Agents and Corticosteroids
Muscle & Nerve 17:647-654994., Barohn,R.J.,et al, 1994
Clinical and Electrophysiological Aspects of Acute Paralytic Disease of Children and Young Adults in Northern China
Lancet 338:593-597, McKhann,G.M.,et al, 1991
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Paralytic Shellfish Poisoning:A Case Report and Serial Electrophysiologic Observations
Neurol 40:1310-1312, Long,R.R.,et al, 1990
Clinicopath Conf
Hodgkin's Disease and Guillain Barre Syndrome, Case Record 39-1990, NEJM 323:895-908990., , 1990
Nerve Conduction Study of Human Tetrodotoxication
Neurol 39:743-745, Oda,K.,et al, 1989
The Lambert-Eaton Myasthenic Syndrome, A Review of 50 Cases
Brain 111, 577-5961988., O'Neill,J.H.,et al, 1988
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
Neurol 32:975-985, Agamanolis,D.P.,et al, 1982
Familial Fatal Parkinsonism with Alveolar Hypoventilation & Mental Depression
Ann Neurol 6:523-531, Purdy,A.,et al, 1979
Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
Clinical Pathological Conference
Multiple Myeloma with Paraneoplastic Motor Neuropathy & Cauda-equina Compression, Case Record 31-197, , NE97:266,1977., 1977
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972