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Filter Applied: molecular genetics (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

Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009

Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003

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

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

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014

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

Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012

Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
FEBS J 277:1070-1075, Riant, F.,et al, 2010

Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
Ann Neurol 65:257-267,235, Yao,K.,et al, 2009

Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009

Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009

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

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008

Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006

Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003

CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
Neurol 58:390-396,339, Gleissner,B.,et al, 2002

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000

What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

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

Indications and Value of Nerve Biopsy
Muscle & Nerve 22:1617-1619, Said,G., 1999

Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998

The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
Arch Neurol 55:1287-1290, Evans,G.A., 1998

The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
JAMA 278:51-57, Gutmann,D.H.,et al, 1997

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

Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996

Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
Neurol 46:1133-1137, Pareyson,D.,et al, 1996

The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996

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

Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996

Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996

Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995

Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
Arch Neurol 113:749-753, Claes,S.,et al, 1995

Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995

Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
Neurol 45:2018-2023, Gouider,R.,et al, 1995

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994

Myotonic Dystrophy with No Trinucleotide Repeat Expansion
Neurol 35:269-272, 2551994., Thornton,C.A.,et al, 1994

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994



Showing articles 0 to 50 of 65 Next >>