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Filter Applied: genetic neurologic disorders (Click to remove)

Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017

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

Parental Transmission of MS in a Population-Based Canadian Cohort
Neurol 69:1208-1212,1202, Herrera,B.M.,et al, 2007

Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004

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

Conjugal Multiple Sclerosis: Population-Based Prevalence and Recurrence Risks in Offspring
Ann Neurol 48:927-931, Evers,G.C.,et al, 2000

De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000

The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998

Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997

Evidence for Genetic Basis of Multiple Sclerosis
Lancet 347:1728-1730, Sadovnick,A.D.,et al, 1996

The British Isles Survey of Multiple Sclerosis in Twins
Neurol 44:11-15, Mumford,C.J.,et al, 1994

Progressive Multifocal Leukoencephalopathy Complicating Wiskott-Aldrich Syndrome
Arch Neurol 51:422-426, Katz,D.A.,et al, 1994

Familial Multiple Sclerosis:MRI Findings in Clinically Affected and Unaffected Siblings
JNNP 55:883-886, Teinari,P.J.,et al, 1992

Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,et al, 1992

Conjugal Multiple Sclerosis:A Clinical and Laboratory Study
Neurol 41:1320-1321, Finelli,P.F., 1991

Risk Factors for Multiple Sclerosis:Race or Place? Editorial
JNNP 53:821-823, 903, 906990., Compston,A., 1990

The Familial Nature of Multiple Sclerosis:Age-Correlated Empiric Recurrence Risks for Children & Siblings of Pts
Neurol 38:990-991, Sadovnick,A.D.,et al, 1988

Multiple Sclerosis & Systemic Lupus Erythematosus, Occurrence in Two Generations of the Same Family
Arch Int Med 147:1317-1320, Sloan,J.B.,et al, 1987

Cerebrospinal Fluid Findings in Healthy Siblings of Multiple Sclerosis Patients
Neurol 36:727-729, Duquette,P.&Charest,L., 1986

A Population-Based Study of Multiple Sclerosis in Twins
NEJM 315:1638-1642, Ebers,G.C.,et al, 1986

Conjugal Multiple Sclerosis
In Handbook of Clinical Neurol, Elsivier Publ, Amsterdam 47:291985., Myrianthopoulos,N.C., 1985

The Genetics of Susceptibility to Multiple Sclerosis
Epidemiol Rev 4:45-65, Spielman,R.S.&Nathanson,N., 1982

The Familial Nature of MS:Empiric Recurrence Risks for First, Second-, & Third-degree Relatives of Pts
Neurol 31:1039-1041, Sadovnick,A.D.,et al, 1981

Optic Neuritis in Familial MS
Neurol 31:1138-1142, Ebers,G.C.,et al, 1981

Specific Laboratory Test for Diagnosis of MS
BMJ 1:412, Field,E.J.,et al, 1974

Familial and Conjugal Multiple Sclerosis
Brain 86:315-332, Schapira,K.,et al, 1963

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019

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

Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017

A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013

Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009

Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009

Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009

Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007

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

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006



Showing articles 0 to 50 of 76 Next >>