Neurology Specific Literature Search   
 
[home][thesaurus]
    

Enter your terms
above and click
the 'Search' button.
Showing articles 0 to 50 of 50

Filter Applied: gene (Click to remove)

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012

Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995

Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013

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

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

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

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

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

Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, 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

A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
Neurol 72:110-116,106, Lohmann,E.,et al, 2009

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

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

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

a-Synuclein Gene Duplication Is Present in Sporadic Parkinson Disease
Neurol 70:43-49,7, Ahn,T.-B.,et al, 2008

A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008

Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007

Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
Neurol 69:2093-2104, Klein,C. &Schlossmacher,M.G., 2007

Collaborative Analysis of a-Synuclein Gene Promotor Variability and Parkinson Disease
JAMA 296:661-670, Maraganore,D.M.,et al, 2006

Parkinsons Disease and Genetics
The Neurologist 12:240-244, Lester,J.&Otero-Siliceo,E., 2006

Genetics of Parkinsons Disease and Parkinsonism
Ann Neurol 60:389-398, Hardy,J.,et al, 2006

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

Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
Lancet 365:410-412, Nichols, W.C., et al, 2005

Parkinson's Disease
Lancet 363:1783-1793, Samii,A.,et al, 2004

Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003

Complete Genomic Screen in Parkinson Disease
JAMA 286:2239-2244, Scott,W.K.,et al, 2001

Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000

Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
Ann Neurol 46:794-798, Nygaard,T.G.,et al, 1999

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997

Intelligence and the X Chromosome
Lancet 347:1814-1815, Turner,G., 1996

A Gene for Parkinson's Disease
BMJ 313:1278, Hawkes,C., 1996

Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995

Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
Ann Neurol 38:355-356, Duvoisin,R.C.&Golbe,L.I., 1995

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

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990

Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990

The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990

Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989



Showing articles 0 to 50 of 50