Results 81 to 90 of about 27,164 (223)

Spinocerebellar Ataxia Type 27 Patient with a New Mutational Locus: A Case Report-Supplementary File

, 2022
Supplementary files of the manuscript Spinocerebellar Ataxia Type 27 Patient with a New Mutational Locus: A Case Report, which contains 3 videos: Sup. 1 physical examination-1, Sup. 2 physical examination-2, Sup.
Rong, Zhang
core   +1 more source

Magnetic resonance imaging for spinocerebellar ataxia: a bibliometric analysis based on web of science

Frontiers in Neurology
The objective of this study was to review the history of magnetic resonance imaging (MRI) research on spinocerebellar ataxia (SCA) over the last 16 years.
Zhen-Yi Liu, Lin Zhang, Zhao-Di Wang, Zi-Qiang Huang, Meng-Cheng Li, Yan Lu, Jian-Ping Hu, Qun-Lin Chen, Xin-Yuan Chen, Xin-Yuan Chen, Xin-Yuan Chen   +10 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

Arquivos de Neuro-Psiquiatria
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive   +4 more
doaj   +1 more source

Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study

Cell Transplantation, 2017
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, Yi-Chen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K. Lee, Bing-Wen Soong   +9 more
doaj   +1 more source

The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research

Biomedicines, 2023
Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal ...
Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão, Filipa Medeiros, Luís Teves, Carlos Gonzalez, João Lemos, Paula Pires, Pedro Lopes, David Valverde, José Gonzalez, Teresa Kay, João Vasconcelos   +14 more
doaj   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23 [PDF]

, 2015
Item does not contain fulltextSpinocerebellar ataxia type 23 is caused by mutations in PDYN, which encodes the opioid neuropeptide precursor protein, prodynorphin.
Deursen, J.M.A. van, Zhou, Q., Smeets, Cleo J. L. M., Fokkens, Michiel R.,, Bakalkin, G., den Dunnen, W., Jezierska, J., Sluis, B. van de, Watanabe, Hiroyuki,, Jezierska, Justyna, Boddeke, Erik, Kampinga, Harm H.; id_orcid, Meijer, Michel,, Fokkens, M.R., den Dunnen, Wilfred, Boddeke, E., Smeets, C.J., Smeets, C., Zhou, Qin,, Boddeke, Erik,, van Deursen, Jan, Smeets, Cleo J. L. M.,, Kampinga, Harm H., Kampinga, Harm H.,, Fokkens, M., den Dunnen, Wilfred; id_orcid, van de Sluis, B., Kampinga, H.H., Meijer, M., van Deursen, Jan,, van de Sluis, Bart,, Verbeek, Dineke S., Kampinga, H., Fokkens, Michiel R., Duarri, Anna,, Yakovleva, Tania, Yakovleva, Tania,, Verbeek, D.S., Verbeek, Dineke S.,, Duarri, A., Duarri Pique, Anna, van Deursen, J., S. Verbeek, D., Bakalkin, Georgy,, Bakalkin, Georgy, Yakovleva, T., Watanabe, Hiroyuki, Zhou, Qin, van de Sluis, Bart; id_orcid, Jezierska, Justyna,, Dunnen, W. den, Meijer, Michel, van de Sluis, Bart, den Dunnen, Wilfred,, Watanabe, H.   +54 more
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A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia

Movement Disorders, EarlyView.
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson, Isaac Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, Xi Chen, Giulia Coarelli, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Jennifer Faber, for the ESMI MR Study Group, Juan Fernandez‐Ruiz, Mónica Ferreira, Marcondes C. França, Sophia L. Göricke, Shuo Han, Thomas Klockgether, Chen Liu, Jun Luo, Alberto R.M. Martinez, Sergio E. Ono, Chiadi U. Onyike, Gülin Öz, for the EUROSCA MR Study Group, Henry Paulson, Jerry L. Prince, Kathrin Reetz, Thiago J.R. Rezende, Matthis Synofzik, Hélio A. Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, David Vaillancourt, Bart van de Warrenburg, Judith van Gaalen, Xingang Wang, Philipp Wegner, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo   +43 more
wiley   +1 more source

Demographic and clinical data of the patients with cerebellar subtype multiple system atrophy (MSA-C), spinocerebellar ataxia type 3 (SCA3), and type 6 (SCA6) and controls.

, 2022
Demographic and clinical data of the patients with cerebellar subtype multiple system atrophy (MSA-C), spinocerebellar ataxia type 3 (SCA3), and type 6 (SCA6) and controls.
Hiroki Mukai (1719136), Jiaqi Wang (369548), Kyosuke Koide (11023488), Atsuhiko Sugiyama (4567720), Friedemann Paul (25657), Shoichi Ito (7332053), Hajime Yokota (90578), Graham Cooper (6559295), Satoshi Kuwabara (611904), Alexander U. Brandt (8710887), Kenji Ohira (11959613), Shigeki Hirano (500064), Carsten Finke (351337)   +12 more
core   +1 more source