The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Gait Analysis in Neurologic Disorders, Methodology, Applications and Clinical Considerations
Neurol 105:e214154, Ali,F.,et al, 2025
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Stridor in Multiple System Atrophy
Neurol 93:630-639, Cortelli, P.,et al, 2019
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
An 82-year-old man with Worsening Gait
Neurol 89:e246-e252, Chew, S.,et al, 2017
Atypical Presentations of Intracranial Hypotension: Comparison with Classic Spontaneous Intracranial Hypotension
AJNR 37:1256-1261, Capizzano, A.A.,et al, 2016
Autopsy Case of Severe Generalized Dystonia and Static Ataxia with Marked Cerebellar Atrophy
Neurol 85:1522-1524, Miyamoto, R.,et al, 2015
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, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, 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
Acquired Neurosyphilis Presenting as Movement Disorders
Mov Disord 27:690-695, Shah, B.B. & Lang, A.E., 2012
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Reversible Parkinsonism and Ataxia Associated With High-Dose Octreotide
Neurol 70:2345-2346, Espay,A.J., 2008
Second Consensus Statement on the Diagnosis of Multiple System Atrophy
Neurol 71:670-676, Gilman,S.,et al., 2008
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
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
Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
BMJ 316:582-586, 5641998., Crimlisk,H.L.,et al, 1998
Subcotical Arteriosclerotic Encephalopathy (Binswangers Disease)
, Ghika,J. &Bogousslavsky, J., 1998
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Ependymomas of the Posterior Cranial Fossa:CT and MRI Findings
Neuroradiology 37:238-243, Tortori-Donati,P.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Neurological and Neuropsychiatric Spectrum of Wilson's Disease:A Prospective Study of 45 Cases
J Neurol 238:281-287, Oder,W.,et al, 1991
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989
Creutzfeldt-Jakob Disease without Periodic Sharp Wave Complexes:A Clinical, EEG, and Path Study
Neurol 38:1056-1060, Zochodne,D.W.,et al, 1988
Clin. Path. Conference
Multiple-System Atrophy with Parkinsonism, Case 28-13, NEJM 308:1406-1414983., , 1983
Persisting Neurologic Sequelae of Lithium Carbonate Therapy
Arch Neurol 40:747-751, MacDonaldson,I.,et al, 1983
Paroxysmal Symptoms as the First Manifestations of Multiple Sclerosis
JNNP 43:296-304, Twomey,J.A.,et al, 1980
Nervous System Toxicity of Chemo Agents
Young, DF, in Vinken PJ, Bruyn GW, Handbook of Clin Neurol, North-Holland Publ Co, Amster, Vol 39, 1, 80, p 104, 1980
Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
Neurol 29:448-457, Chen,J.R.,et al, 1979
Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Normocalcemic Tetany
Neurol 26:825, Isgreen,W.P., 1976