Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
An 81-year-old Woman with Decreased Consciousness and Fluctuating Right Facial Droop
Neurol 94:843-848, Van Ommeren, R.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A 35-year-old Woman with Diplopia, Ataxia, and Altered Mental Status
Neurol 91:e1942-e1946, Bauer, Z.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Paraneoplastic Cerebellar Degeneration with Anti-Yo Antibodies - A Review
Ann Clin Trans Neurol 3:655-663, Venkatraman,A. & Opal,P., 2016
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Uremic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1145, Ropper, A.H.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Tau Forms in CSF as a Reliable Biomarker for Progressive Supranuclear Palsy
Neurol 71:1796-1803, Borroni,B.,et al, 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
Neurol 66:1672-1678, Arata,H.,et al, 2006
Does This Patient Have Myasthenia Gravis?
JAMA 293:1906-1914, Scherer,K.,et al, 2005
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Clinicopath Conf
Botulism, Case 22-1997, NEJM 337:184-190997., , 1997
Autoantibodies to Glutamic Acid Decarboxylase in Three Patients With Cerebellar Ataxia, Late-Onset Insulin-Dependent Diabetes Mellitus, and Polyendocrine Autoimmunity
Neurol 49:1026-1030, Saiz,A.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Isolated Vitamin E Deficiency
Muscle & Nerve 19:1161-1165996., Jackson,C.E.,et al, 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995
Clinical Features of Myasthenia Gravis
Neurol Clin N Am 12:243-261, Hopkins,L.C., 1994
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Hypoglycemia Presenting as Basilar Artery Thrombosis
Stroke 23:112-113, Rother,J.,et al, 1992
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992