Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Posterior Cerebral Artery Syndromes
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Dystonia after Head Trauma
Neurol 44:1374-1378, Lee,M.S.,et al, 1994
Pseudochoreoatheotosis:Movement Associated with Loss of Proprioception
Arch Neurol 51:1103-1109, Sharp,F.R.,et al, 1994
Post-Traumatic Torticollis
Neurol 39:1642-1643, Isaac,K.&Cohen,J.A., 1989
Torticollis in a Child with Otalgia
BMJ 378:e070608, Sarathi, C.I.P.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinical and Radiologic Features of Pedicatric Opioid Use-Associated Neurotoxicity with Cerebellar Edema (POUNCE) Syndrome
Neurol 94:710-712, Kim, D.D. & Prasad, A.N., 2020
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
Treatable Bilateral Striatal Lesions Related to Anti-Dopamine 2 Receptor
Neurol 91:98-101, Marques-Matos, C.,et al, 2018
Delayed Onset of Progressive Chorea After Acute Basal Ganglia Injury
Mov Disord 28:585-587, Virmani, T.,et al, 2013
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Post-Stroke Movement Disorders; Report of 56 Patients
JNNP 75:1568-1574, Alarcon,F.,et al, 2004
The DYT1 Phenotype and Guidelines for Diagnostic Testing
Neurol 54:1746-1753,1718, Bressman,S.B.,et al, 2000
Thalamic Tremor:Case Reports and Implications of the Tremor-Generating Mechanism
Neurol 46:75-79, Miwa,H.,et al, 1996
Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
Neurol 46:68-74, Scott,B.L.,et al, 1996
Striatopallidal and Thalamic Dystonia, A Magnetic Resonance Imaging Anatomoclinical Study
Arch Neurol 53:241-250, Lehericy,S.,et al, 1996
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
Post-Traumatic Movement Disorders in Survivors of Severe Head Injury
Neurol 47:1488-1492, Krauss,J.K.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Delayed Dystonia with Striatal CT Lucencies Induced by a Mycotoxin (3-Nitropropionic Acid)
Neurol 45:2178-2183, He,F.,et al, 1995
Prolonged MRI T2 Times of the Lentiform Nucleus in Idiopathic Spasmodic Torticollis
Neurol 44:846-850, Schneider,S.,et al, 1994
Post-Traumatic Movement Disorders:Central and Peripheral Mechanisms
Neurol 44:2006-2014, Jankovic,J., 1994
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Posttraumatic Torticollis
Arch Neurol 48:221-223, Truong,D.D.,et al, 1991
Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Hemidystonia:A Report of 22 Patients & a Review of the Literature
JNNP 48:650-657, Pettigrew,L.C.&Jankovic,J., 1985
Pure Hemidystonia with Basal Ganglion Abnormalities on Positron Emission Tomography
Ann Neurol 15:228-233, Perlmutter,J.S.,et al, 1984
Delayed-onset Dystonia in Patients with"Static"Encephalopathy
JNNP 43:789-797, Burke,R.E.,et al, 1980
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021
Anti-NMDAR Encephalitis Presenting as Stroke-Like Episodes in Children: A Case Series from a Tertiary Care Referral Centre from Southern India
J Pediatr Neurosci 16:194-198, Gowda,V.K.,et al, 2021
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
MR Imaging of the Brain in Neurologic Wilson Disease
AJNR 40:178-183, Yu, X.-E.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017