Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995
The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
Ann Neurol 35, 717-7231994., Koller,W.C.,et al, 1994
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
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
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
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
Adams & Victors Principles of Neurology, Chp 33, pg 773, 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
Degenerative Diseases of the Nervous System, Familial Dementia with Spastic Paraparesis
Adams & Victors Principles of Neurology, Chp 39, pg 1081, 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, 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, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, 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
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Family Paralysis
Lancet 377:352, Sung,C.-C.,et al, 2011
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
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
Restless Legs Syndrome: Is Treatable But Under-Recognised
BMJ 333:457-458, Medcalf,P. &Bhatia,K.P., 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 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 Spastic Paraplegia
Arch Neurol 61:849-855,830, Orlacchio,A.,et al, 2004
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. 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
Familial Migraine with Vertigo and Essential Tremor
Neurol 46:458-460, Baloh,R.W.,et al, 1996
Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996
Restless Legs Syndrome:Clinicoetiologic Correlates
Neurol 47:1435-1441, Ondo,W.&Jankovic,J., 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
X-Linked Pure Familial Spastic Paraparesis
Arch Neurol 52:665-669, Cambi,F.,et al, 1995