JMD :: Journal of Movement Disorders

Involuntary movements, vocalizations and cognitive decline

Olafur Sveinsson, Bjarne Udd, Per Svenningsson, Christoph Gassner, Charlotte Engström, José Laffita-Mesa, Göran Solders, Stellan Hertegård, Irina Savitcheva, Hans H. Jung, Markus Tolnay, Beat M. Frey, Martin Paucar

Parkinsonism & Related Disorders.2020; 79: 135. CrossRef

Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis

Fumio Suzuki, Noriko Sato, Miho Ota, Atsuhiko Sugiyama, Yoko Shigemoto, Emiko Morimoto, Yukio Kimura, Noritaka Wakasugi, Yuji Takahashi, Akinori Futamura, Mitsuru Kawamura, Kenjiro Ono, Masayuki Nakamura, Akira Sano, Masako Watanabe, Hiroshi Matsuda, Osam

Journal of the Neurological Sciences.2020; 408: 116545. CrossRef

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek

Molecular Genetics & Genomic Medicine.2020;[Epub] CrossRef

Neuroacanthocytosis with unusual clinical features

VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation

Sandra Muñoz-Braceras, Alba R. Tornero-Écija, Olivier Vincent, Ricardo Escalante

Disease Models & Mechanisms.2019; 12(2): dmm036681. CrossRef

Juvenile parkinsonism: Differential diagnosis, genetics, and treatment

Parkinsonism & Related Disorders.2019; 67: 74. CrossRef

CONTINUUM: Lifelong Learning in Neurology.2019; 25(4): 1001. CrossRef

Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings

Fumio Suzuki, Noriko Sato, Atsuhiko Sugiyama, Keiya Iijima, Yoko Shigemoto, Emiko Morimoto, Yukio Kimura, Hiroyuki Fujii, Yuji Takahashi, Yasuhiro Nakata, Hiroshi Matsuda, Osamu Abe

Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

Huntington's disease-like disorders in Latin America and the Caribbean

Ruth H. Walker, Emilia M. Gatto, M. Leonor Bustamante, Oscar Bernal-Pacheco, Francisco Cardoso, Raphael M. Castilhos, Pedro Chana-Cuevas, Mario Cornejo-Olivas, Ingrid Estrada-Bellmann, Laura B. Jardim, Ricardo López-Castellanos, Ricardo López-Contreras, D

Parkinsonism & Related Disorders.2018; 53: 10. CrossRef

Movement Disorders Clinical Practice.2018; 5(4): 442. CrossRef

Comment on: Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease

Harriet Van Den Tooren, Benjamin M. Davies, Monty Silverdale, David McKee

Movement Disorders Clinical Practice.2017; 4(3): 463. CrossRef

Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

Yan Shen, Xiaoming Liu, Xi Long, Chao Han, Fang Wan, Wenliang Fan, Xingfang Guo, Kai Ma, Shiyi Guo, Luxi Wang, Yun Xia, Ling Liu, Jinsha Huang, Zhicheng Lin, Nian Xiong, Tao Wang

Frontiers in Aging Neuroscience.2017;[Epub] CrossRef

Stepwise partitioning of Xp21: a profiling method forXKdeletions causative of the McLeod syndrome

Christoph Gassner, Chantal Brönnimann, Yvonne Merki, Maja P. Mattle-Greminger, Sonja Sigurdardottir, Eduardo Meyer, Charlotte Engström, John D. O'Sullivan, Hans H. Jung, Beat M. Frey

Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis

Raffaele Dubbioso, Marcello Esposito, Silvio Peluso, Rosa Iodice, Giuseppe De Michele, Lucio Santoro, Fiore Manganelli

The First Genetically Confirmed McLeod Syndrome in Korea

Journal of the Korean Neurological Association.2017; 35(2): 85. CrossRef

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation

K. Mente, S. A. Kim, C. Grunseich, M. M. Hefti, J. F. Crary, A. Danek, B. I. Karp, R. H. Walker

Neuropathology and Applied Neurobiology.2017; 43(6): 542. CrossRef

Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease

Weronika Rzepnikowska, Krzysztof Flis, Sandra Muñoz-Braceras, Regina Menezes, Ricardo Escalante, Teresa Zoladek

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Alexander M Rossor, Aisling S Carr, Helen Devine, Hoskote Chandrashekar, Ana Lara Pelayo-Negro, Davide Pareyson, Michael E Shy, Steven S Scherer, Mary M Reilly

Journal of Neurology, Neurosurgery & Psychiatry.2017; 88(10): 846. CrossRef

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Movement Disorders Clinical Practice.2016; 3(4): 342. CrossRef

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho,

Journal of Movement Disorders.2016; 9(1): 20. CrossRef

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach

Davide Tonduti, Luisa Chiapparini, Isabella Moroni, Anna Ardissone, Giovanna Zorzi, Federica Zibordi, Sergio Raspante, Celeste Panteghini, Barbara Garavaglia, Nardo Nardocci

Current Neurology and Neuroscience Reports.2016;[Epub] CrossRef

Clinical variability of neuroacanthocytosis syndromes—a series of six patients with long follow-up

J. Dulski, W. Sołtan, M. Schinwelski, M. Rudzińska, M. Wójcik-Pędziwiatr, L. Wictor, F. Schön, A. Puschmann, J. Klempíř, L. Tilley, J. Roth, P. Tacik, S. Fujioka, W. Drozdowski, E.J. Sitek, Z. Wszolek, J. Sławek

Clinical Neurology and Neurosurgery.2016; 147: 78. CrossRef