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Filter Applied: genetic neurologic disorders (Click to remove)

A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020

A Case of Refractory Nocturnal Seizures
Neurol 84:e134-e136, Pavlakis, P.P. & Douglass, L.M., 2015

Clinical and Genetic Studies of Fatal Familial Insomnia
Neurol 45:1068-1075, Reder,A.T.,et al, 1995

Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992

Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992

Tourette Syndrome and Other Tic Disorders, Diagnosis, Pathophysiology, and Treatment
Medicine 70:15-32, Singer,H.S.&Walkup,J.T., 1991

Narcolspey
NEJM 323:389-394, Aldrich,M.S., 1990

Familial Patterns of Narcolepsy
lancet 2:1376-1379, Guilleminault,C.,et al, 1989

Narcolepsy & Immunity
BMJ 292:359-360, Parkes,J.D.,et al, 1986

Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
NEJM 315:997-1003, Lugaresi,E.,et al, 1986

Narcolepsy-Cataplexy
Arch Neurol 39:164-168, Kales,A.,et al, 1982

Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978

Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

A Genetic Risk Factor for Periodic Limb Movements in Sleep
NEJM 357:639-647, Stefansson,H.,et al, 2007

Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002

Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000

Multiple Sclerosis
NEJM 343:938-952, Noseworthy,J.H. et al, 2000

Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998

CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

Acute Intermittent Porphyria:Clinicopathologic Correlation
Neurol 48:1678-1683, Suarez,J.I.,et al, 1997

Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,et al, 1996

Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996

Tourette's Syndrome:A Model Neuropsychiatric Disorder
JAMA 273:498-501, Hyde,T.M.&Weinberger,D.R., 1995

Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994

Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994

Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992

MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992

Clinicopath Conf
Huntington's Diseae, Case2-1992, NEJM 326:117-125992., , 1992

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

The Biology of Developmental Dyslexia
JAMA 268:912-915, Rumsey,J.M., 1992

Analysis of the Prion Protein Gene in Thalamic Dementia
Neurol 42:1859-1863, Petersen,R.B.,et al, 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988

Dementia in Down's Syndrome:Cerebral Glucose Utilization, Neuropsychological Assessment, and Neuropathology
Neurol 38:938-942, Schapiro,M.B.,et al, 1988

Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988

Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988

Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987

Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987

Gerstmann-Straussler-Scheinker Disease:Autopsy Study of a Familial Case
Ann Neurol 20:540-543, Vinters,H.V.,et al, 1986

Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
Am J Med 77:86-92, Press,O.L.W.,et al, 1984

Hyperekplexia
Arch Neurol 40:246-248, Kurczysnki,T.W., 1983



Showing articles 0 to 50 of 57 Next >>