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Filter Applied: molecular genetics (Click to remove)

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

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993

Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993

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

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

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

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

Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990

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

A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
NEJM 373:154-162, Hoffmann, B.,et al, 2015

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

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

LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011

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

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

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

Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008

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

Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007

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

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

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004

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

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

Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002

Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001

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

Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999

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

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

Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996

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

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995

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

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

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

The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994

CAG Repeat Size and Clinical Presentation in Huntington's Disease
Neurol 44:1137-1143, Ashizawa,T.,et al, 1994

A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994

Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
Ann Neurol 36:630-635, Illarioshkin,S.N.,et al, 1994

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994



Showing articles 0 to 50 of 55 Next >>