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
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
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
Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
Neurol 44:2250-2252, Gouider,R.,et al, 1994
Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
Neurol 44:2253-2257, Chance,P.F.,et al, 1994
REcurrent Familial Brachial Plexus Palsies as the ONly Clinical Expression of'Tomaculous'Neuropathy
Eur Neurol 29:61-66, Martinelli,P.,et al, 1989
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Polyneroupathies of Undetermined Cause
Acta Neurol Scand (Supp) :5970., Prineas,J., 1970
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Neuromyelitis Optica Spectrum Disorders
UpToDate, May, Glisson,C.C., 2016
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
Adams & Victors Principles of Neurology, Chp 30, pg 628, Ropper, A.H.,et al, 2014
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Familial Neuromyelitis Optica
Neurol 75:310-315, Matiello,M., et al, 2010
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
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Hereditary Motor and Sensory Neuropathies
Peripheral Neuropathy, Dyck,P.J. & Thomas,P.K. (Ed). Elsevier Publ, Vol 2, Ch 69: 1623-1635, Shy,M.E., et al, 2005
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002
Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
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
Familial Idiopathic Intracranial Hypertension with Spinal and Radicular Pain
Arch Neurol 55:854-856, Santinelli,R.,et al, 1998
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 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
Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
Neurol 46:1128-1132, Pellegrino,J.E.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,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
Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
Ann Int Med 120:133-134, Skinner,M.,et al, 1994
DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
J Pediatr 123:431-434, Hamiel,O.P.,et al, 1993
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
Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992