Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,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
A Case of Altered Mental Status, Not Otherwise Specified
Neurol 89:e154-e158, Swor, D.E.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Serotonin Syndrome
BMJ 348:g1626, Buckley, N.A.,et al, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Cerebral Fat Embolism Syndrome in Sickle Cell Anaemia/�-Thalassemia: Importance of Susceptibility-weighted MRI
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Treatment of Severe Neurological Deficits with IgG Depletion through Immunoadsorption in Patients with Escherichia coli O104:H4-Associated Haemolytic Uraemic Syndrome: A Prospective Trial
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Transverse Myelitis
NEJM 363:564-572, Frohman,E.M. &Wingerchuk,D.M., 2010
Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
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Managing Acute Organophosphorus Pesticide Poisoning
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Pediatric Encephalitis: What Is the Role of Mycoplasma Pneumoniae
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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
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Mycoplasma Pneumoniae Encephalitis in Childhood
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Neurologic Complications in Children with Enterovirus 71 Infection
NEJM 341:936-942, Huang,C-C.,et al, 1999
Baclofen Overdose:Drug Experimentation in a Group of Adolescents
Pediatrics 101:1045-1048, Perry,H.E.,et al, 1998
Pertussis Encephalopathy with High Cerebrospinal Fluid Antibody Titers to Pertussis Toxin and Filamentous Hemagglutinin
Pediatrics 102:986-990, Grant,C.C.,et al, 1998
Epidemiology, Pathophysiology, & Management of Hyponatremic Encephalopathy
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Brain Damage and Postoperative Hyponatremia:The Role of Gender
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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
Excess Water Administration and Hyponatraemic Convulsions in Infancy
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Nerve Agents:A Review
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Acute Toxic Reaction to Carbamazepine:Clinical Effects and Serum Concentrations
J Pediatr 121:295-299, Tibballs,J., 1992
Management of Injuries Due to Chemical Weapons
BMJ 302:129-130, Murray,V.S.G.&Volans,G.N., 1991
Cyanide Poisoning from a Cosmetic Nail Remover
Pediatrics 88:337-340, Losek,J.D.,et al, 1991
Oral Water Intoxication of Infants, An American Epidemic
Am J Dis Child 145:985-990, Keating,J.P.,et al, 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Risks Associated with Giving Benzodiazepines to Patients with Acute Neurological Injuries
BMJ 300:1189-1190, Eldridge,P.R.&Punt,J.A.G., 1990
Respiratory Muscle Weakness in Charcot-Marie-Tooth Disease, A Field Study
Arch Int med 149:1389-1391, Nathanson,B.N.,et al, 1989
Phenytoin-Induced Acute Respiratory Failure with Pulmonary Eosinophilia
Am J Med 87:93-94, Mahatma,M.,et al, 1989
Respiratory Muscle Dysfunction in Hereditary Motor Sensory Neuropathy, Type I
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Hyponatremia, Convulsions, Respiratory Arrest, & Perm Brain Damage After Elective Surgery in Healthy Women
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Acid Maltase Deficiency
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Familial Infantile Myasthenia Gravis
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Involvement of Upper-Airway Muscles in Extrapyramidal Disorders
NEJM 311:438-442, Vincken,W.G.,et al, 1984