The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A 25-Year-Old Woman With Eye Swelling and HEadache
Neurol 100:879-883, Hehir,A.,et al, 2023
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Advances in Progressive Supranuclear Palsy: New Diagnostic Criteria, Biomarkers, and Therapeutic Approaches
Lancet Neurol 16:552-563, Boxer, A.L.,et al, 2017
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Identification of an Oculomotor biomarker of Preclinical Huntington Disease
Neurol 67:485-487, Golding,C.V.P.,et al, 2006
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Neurologic Presentation of Whipple Disease
Medicine 81:443-457, Gerard,A.,et al, 2002
Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997
Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
The Sit-up Test:An Alternative Clinical Test for Evaluating Pediatric Torticollis
Pediatrics 90:612-615, Caputo,A.R.,et al, 1992
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
Arch Neurol 43:677-680, Mito,T.,et al, 1986
Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
Arch Neurol 43:1050-1053, Farris,B.K.,et al, 1986
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Ocular Motor Abnormalities in Hereditary Cerebellar Ataxia
Brain 99:207-234, Zee,D.S.,et al, 1976
Encephalomyelopathy of Leigh
Editorial BMJ 238, 1971, May., , 1971