Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Sleep Paralysis
Lancet 341:406-407, Dahlitz,M.&Parkes,J.D., 1993
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Risk of Sudden Death During Sleep in Syringomyelia and Syringobulbia
JNNP 55:585-589, Nogues,M.A.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Motor Neurone Disease:A Hospice Perspective
BMJ 304:471-473, O'Brien,T.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
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
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Tourette Syndrome and Other Tic Disorders, Diagnosis, Pathophysiology, and Treatment
Medicine 70:15-32, Singer,H.S.&Walkup,J.T., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Narcolspey
NEJM 323:389-394, Aldrich,M.S., 1990
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Familial Parkinsonism, Apathy, Weight Loss & Central Hypoventilation:Successful Long-Term Management
Neurol 38:637-639, Roy,E.P.,et al, 1988
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987
Clinicopath Conf
Tuberous Sclerosis, Case 41-1986, NEJM 315:1013-1022986., , 1986
Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
NEJM 315:997-1003, Lugaresi,E.,et al, 1986
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
An Autosomal-dominant Dystrophy with Humeropelvic Distribution & Cardiomyopathy
Neurol 32:1399-1401, Fenichel,G.M.,et al, 1982
Narcolepsy-Cataplexy
Arch Neurol 39:164-168, Kales,A.,et al, 1982
Amyotrophic Lateral Sclerosis
Arch Neurol 35:638-642, Rosen,A.D., 1978
Familial Vascular Malformation or Chance Occurrence
Neurol 28:98, Barre,R.G.,et al, 1978
An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
JNNP 40:1102, Selby,P.J.,et al, 1977
Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
et al NEJM 293:1017, Waters,D.D., 1975
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
Neurol 104: e213682, Hayakawa,I.,et al, 2025
Clinical, Prognostic, and Longitudinal Functional and Neuropsychological Features of West Nile Virus Neuroinvasive Disease in the United States: A Systematic Review and Meta-Analysis
Ann Neurol 98:93-106, Roberts,J.A.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Real-World Evidence of Brexpiprazole Use and 6-Month Mortality, Hospitalization, and Emergency Department Visits Among Persons with Dementia
Neurol 105: e213717, Zissimopoulos, J.,et al, 2025
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Pan-Neurofascin Nodo-Paranodopathy Presenting as Fulminant Guillain-Barre Syndrome
Neurol 105:e213848, Cabral,A.,et al, 2025
Posterior Fossa Ring-Enhancing Lesions in the Adult Immunocompetent Host: Illustrative Cases, Systematic Review, and proposed Diagnostic Algorithm
AJNR 46:1534-1541, Van Boxstael,E.,et al, 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025