Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1096, Ropper, A.H.,et al, 2014
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
JNNP 83:159-163, Guettard,E.,et al, 2012
Rapidly Progressive Corticobasal Degeneration Syndrome
Case Rep Neurol 3:185-190, Herrero Valverde, A.,et al, 2011
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
A 75-Year-Old Woman with Progressive Right-Hand Tremor and Inability to Use Her Right Side
Neurol 73:1399-1405, Kertesz,A.,et al, 2009
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
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
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
Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
Arch Neurol 55:957-961, Kompoliti,K.,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
Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997
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
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 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
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Extrapyramidal Involvement in Rett's Syndrome
Neurol 40:293-295, FitzGerald,P.M.,et al, 1990
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
Neurol 36:1424-1428, Nygaard,T.C.&Duvoisin,R.C., 1986
Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
Neurol 29:448-457, Chen,J.R.,et al, 1979
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A Randomized Trial of Shunting for Idiopathic Normal-Pressure Hydrocephalus
NEJM 393:2198-2209, 2264, Luciano,M.G.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 67 YEar-Old Woman with Progressive Headache, Visual Hallucinations, and Seizures
Neurol 104:e213496, Gheihman,G.,et al, 2025
A 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
Methamphetamine-Induced Basal Ganglia Toxicity Presenting as Parkinsonism
Neurol 104:e213365, Yi,M.Y.,et al, 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
Neurol 105:e214381, Gomez,A.C.et al, 2025