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
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Consensus Practice Guidelines on Postdural Puncture Headache from a Multisociety, International Working Group
JAMA Network Open 6:e2325387, Uppal,V.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
Neurol 97:342-347, Zahid, A.,et al, 2021
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Neurobrucellosis Brief Review
Neurologist 26:248-252, Bouferraa,Y.,et al, 2021
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Identifying and Managing Common Childhood Language and Speech Impairments
BMJ 350:h2318, Reilly, S.,et al, 2015
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Menieres Disease
Lancet 372:406-414, Saijadi, H. &Paparella,M.M., 2008
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Spontaneous Spinal Cerebrospinal Fluid Leaks and Intracranial Hypotension
JAMA 295:2286-2296, Schievink,W.I., 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Susac Syndrome:Report of Four Cases and Review of the Literature
AJNR 25:382-388,351, Do,T.H.,et al, 2004
Neurologic Manifestations in Primary Sjogren Syndrome: A Study of 82 Patients
Medicine 83:280-291, Delalande,S.,et al, 2004
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,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
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Clinicopath Conf
Neurolymphomatosis, Case 8-1995, NEJM 332:730-737995., , 1995
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Management of Acoustic Neuroma
BMJ 311:1141-1144, Wright,A.&Bradford,R., 1995
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977