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Filter Applied: gene (Click to remove)

A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
Ann Neurol 37:289-293, 2851995., Vahedi,K.,et al, 1995

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

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

The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003

The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001

Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999

Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

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

Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995

Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995

Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993

Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993

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

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

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021

Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021

Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Wilson Disease
NIDDK Oct2018, , 2018

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014

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

Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010

A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010

Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009



Showing articles 0 to 50 of 177 Next >>