Results 201 to 210 of about 600,045 (285)

Rehabilitation of High-Level Dynamic Balance Skills in an Individual With Significant Nonprogressive Cerebellar Atrophy: Case Report. [PDF]

Arch Rehabil Res Clin Transl
Croarkin E, Shrader JA, Shahim P, Yonter S, Toro C, Zampieri C.   +5 more
europepmc   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Specific Glutamylation Patterns of the Cytoskeleton Confer Neuroresistance to Lobe X of the Cerebellum in a Model of Childhood-Onset Neurodegeneration with Cerebellar Atrophy. [PDF]

Int J Mol Sci
Hernández-Pérez C, Calderón-García AA, Pérez-Boyero D, González-Núñez V, Weruaga E, Díaz D.   +5 more
europepmc   +1 more source

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome). [PDF]

Tremor Other Hyperkinet Mov (N Y)
Gattermeyer-Kell L, Kern D, Kögl M, Schwingenschuh P.   +3 more
europepmc   +1 more source

Automated Magnetic Resonance Volumetry to Measure Multiple System Atrophy Disease Progression in Clinical Trials

Movement Disorders, EarlyView.
Abstract Background Recent studies have reported longitudinal brain atrophy in multiple system atrophy (MSA) in relatively small patient cohorts. Objective To compare longitudinal regional brain volume and clinical changes as endpoint measures for MSA clinical trials.
Andrea Quattrone, Ida Wilkens, Zeyu Zhu, Irfan A. Qureshi, Nicolai Franzmeier, Günter U. Höglinger, for the M‐STAR Study Group, Phillip Low, Wolfgang Singer, Stuart Isaacson, Susan Perlman, Tao Xie, Zbigniew Wszolek, Diana Kerwin, Diana Apateurova, Theresa Zesiewicz, Roy Freeman, Rajesh Pahwa, Nikolaus McFarland, Eric Molho, Michael Geschwind, Rajeev Kumar, Sana Aslam, Dignity Health, Jee Bang, Aaron Ellenbogen, Italo Biaggioni, Andres Deik, Patricio Millar Vernetti, Jose‐Alberto Palma‐Carazo, Horacio Kaufmann, Pravin Khemani, Jeremy Schmahmann, Xuemei Huang, Irene Litvan, Mitchell Miglis, Deborah Hall, Sheng‐Han Kuo, Stewart Factor, Steven Vernino, Werner Poewe, Caroline Thun‐Hohenstein, Sophie Drapier, Alexandre Eusebio, Wassilios Meissner, Anne Pavy Le Traon, Christine Tranchant, Daniela Berg, Jost‐Julian Rumpf, Karla Eggert, Alfons Schnitzler, Lars Tönges, Jens Ebentheuer, Claudia Trenkwalder, Inga Claus, Tobias Warnecke, Guenter Hoeglinger, Annika Spottke, Nicola Pavese, Alessio DiFonzo, Paolo Barone, Huw Morris, Klaus Seppi   +62 more
wiley   +1 more source

AAV-based gene therapy ameliorates neurological deficits in a mouse model of childhood-onset neurodegeneration with cerebellar atrophy. [PDF]

Mol Ther
Wada H, Hama N, Hasegawa K, Takamuku C, Yoshida M, Omura M, Araki A, Kuwako KI.   +7 more
europepmc   +1 more source

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Brain : a journal of neurology, 2016
G. Schottmann, Christiane Wagner, Franziska Seifert, W. Stenzel, M. Schuelke   +4 more
semanticscholar   +1 more source

In Vivo Dynamic D2O‐MRI for Quantifying Apparent CSF Water Renewal Across Ventricular and Extraventricular Compartments

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose The choroid plexus has long been regarded as the principal source of cerebrospinal fluid (CSF), yet this view remains unresolved. We developed a dynamic indirect D2O MRI approach to quantify regional apparent CSF water renewal in vivo in rats at 9.4 T.
Zhao Zhang, Yun Wu, Yanmin Zheng, Zhuoyang Lin, Ye Li, Qiong Ye   +5 more
wiley   +1 more source

Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar Atrophy. [PDF]

J Clin Neurol
Ling C, Wang J, Zheng Y, Sun Y.
europepmc   +1 more source