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
Huntington's Chorea
Bruyn, G. W. In Vinken & Bruyn, Handbk of Clin Neurol, North-Holland Publ Co, Amsterdam, 6:298, , 1968
Acute Cerebellar Syndrome Secondary to Infectious Mononucleosis in a Fifty-Two Yealr Old Man
Ann Int Med 55:147-149, Bennett,D.R.&Peters,H.A., 1961
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
A 71-Year-Old Man Presenting with Acute Onset Dysarthria and Dysphagia
Neurol 96:180-184, Spagni, G.,et al, 2021
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Orofacial Dyskinesia in a Young Man
JAMA Neurol 76:1517-1518, Tian, X.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
A 27-year-old man with Acute-Onset Ataxia
Neurol 88:e207-e211, Risco, J. & Weiss, M., 2017
Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
Neurol 82:49-56, Graff-Radford, J.,et al, 2014
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Mercury
Adams & Victors Principles of Neurology Chp 43, pg 1223, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Cerebellitis (Acute Ataxia of Childhood)
Adams & Victors Principles of Neurology, Chp 33, pg 754, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, 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
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
A Strange Case of Waitress Headache
Lancet 378:1824, Libera, D.D.,et al, 2011
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Clinicopath Conf., Gliomatosis Cerebri
Neurol 69:600-606, Fleming,J.O.,et al, 2007
Late-Onset Friedreich Ataxia
Arch Neurol 62:1865-1869, Bhidayasiri,R.,et al, 2005
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Neurologic Presentation of Wilson Disease without Kayser-Fleischer Rings
Neurol 46:1040-1043, Demirkiran,M.,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
Clinicopath Conf
Progressive Muscular Atrophy, Case 36-1995, NEJM 333:1406-1412995., , 1995
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Delayed Cyanide Induced Dystonia
JNNP 55:198-199, Valenzuela,R.,et al, 1992
Neurological Complications Following Liver Transplantation
Ann Neurol 31:644-649, Stein,D.P.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Sydenham Chorea:An Update
Neurol 30:331-334, Nausieda,P.A.,et al, 1980
Fusiform Basilar Artery Aneurysm in a Child
Neurol 29:1045-1049, Read,D.,et al, 1979
Familial Idiopathic Cerebral Calcifications
et al. , JNNP 40:280977., Boller,F., 1977
Case Records of MGH-NEJM 286:1047
1972 Progressive Multifocal Leukoencephalopathy., , 1972
Spastic Pseudosclerosis (Creutzfeldt-Jakob Dis) Van Rossum A. , In:Vinken, P. J.
Handbk of Clin Neurol Vol 6 North-Holland Publ. Amster 1968 Ch 28, p 726., Bruyn,G.W., 1968