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Filter Applied: genetic neurologic disorders (Click to remove)

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

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

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

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024

A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024

A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023

Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022

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

Wilson Disease
NIDDK Oct2018, , 2018

Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017

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

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014

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

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008

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

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000

Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999

Tourette Syndrome:Update and Review of the Literature
The Neurologist 4:188-195, Feigin,A.&Clarke,H., 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996

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

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

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

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

Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992

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

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

Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992

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

Tourette's Syndrome:Current Concepts
Neurol 39:1625-1630, Kurland,R., 1989

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

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

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

Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986

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

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

Agenesis of the Corpus Callosum
Arch Neurol 37:444-445, Lynn,R.B.,et al, 1980

Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
Arch Neurol 36:95-99, Neil,J.F.,et al, 1979

Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978

Gilles de la Tourette's syndrome:Clinical, Genetic, Psychologic, & Biochemical Aspects in 21 Selected Families
Neurol 27:115, Eldridge,R.,et al, 1977

Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976



Showing articles 0 to 50 of 50