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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017

Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014

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

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

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

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

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

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

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

Clinical Spectrum of Chronic Acquired Demyelinating Polyneuropathies
Muscle & Nerve 24:311-324, Saperstein,D.S.,et al, 2001

PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
Neurol 50:760-763, Young,P.,et al, 1998

Detection of a Varient Protein in Hair:New Diagnostic Method in Portuguese Type Familial Amyloid Polyneuropathy
BMJ 316:1500-1501, Ando,Y.,et al, 1998

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

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

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

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

Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994

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

Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993

Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992

Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991

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

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

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

The Optic Nerve Should Graduate to Be the Fifth Lesion Site for the Diagnosis of Multiple Sclerosis
Neurol 102:e207919, Galetta,S. & Brownlee, W., 2024

Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024

Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023

A 25-Year-Old Woman With Eye Swelling and HEadache
Neurol 100:879-883, Hehir,A.,et al, 2023

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023

Management of Possible Multiple Sclerosis
NEJM 388:2195-2190, , 2023

Idiopathic Orbital Inflammation and Tolosa-Hunt Syndrome with Intracranial Extension
Neurol 101:371-374, Yu,S. & Chen,T., 2023

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
www.UptoDate.com, Sept, Flanagan,E.P. & Tillema,J-M, 2023

Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023

Consensus Practice Guidelines on Postdural Puncture Headache from a Multisociety, International Working Group
JAMA Network Open 6:e2325387, Uppal,V.,et al, 2023

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022

More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022

An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022

Neuromyelitis Optica Spectrum Disorder
NEJM 387:631-639, Wingerchuk, D.M. & Lucchinetti, C.F., 2022

Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022

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

Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021

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

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

A 47-Year-Old With Headache, Vertigo, and Double Vision
Neurol 97:e535-e539, Frey, J.,et al, 2021



Showing articles 0 to 50 of 315 Next >>