A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
Ann Neurol 35, 717-7231994., Koller,W.C.,et al, 1994
Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991
Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,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
Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
Paroxysmal Kinesigenic Dyskinesia
Neurol 85:1546-1553, Huang, X.J.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, 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
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Cerebellar Degeneration
Adams & Victors Principles of Neurology, Chp 39, pg 1105, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
A Variant in the HS1-BP3 Gene is Associated with Familial Essential Tremor
Neurol 64:417-421, Higgins, J.J., et al, 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
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
Arch Neurol 56:721-726, Matsuo,H.,et al, 1999
Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999
Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997
Neurodevelopmental Dysfunction Among Nonreferred Children with Idiopathic Megalencephaly
J Pediatr 131:320-324, Sandler,A.D.,et al, 1997
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996