Longitudinal changes in the inferior cerebellar peduncle and lower limb motor recovery following subcortical infarction

Autor: Gang Liu, Yaomin Guo, Chao Dang, Kangqiang Peng, Shuangquan Tan, Chuanmiao Xie, Shihui Xing, Jinsheng Zeng

Publikováno v: BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)

Abstract Background The cerebellum receives afferent signals from spinocerebellar pathways regulating lower limb movements. However, the longitudinal changes in the spinocerebellar pathway in the early stage of unilateral supratentorial stroke and th

Externí odkaz: https://doaj.org/article/9ace9e911bc349c59b1115fd9052b41b

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time

Autor: Yue Xie, Zhe Long, Kun Xia, Na Wan, Guangdong Zou, Hong Jiang, Mingjie Liu, Gaofeng Zhou, Linliu Peng, Chunrong Wang, Huirong Peng, Zhengmao Hu, Weihua Liao, Yi-Zheng Jiang, Beisha Tang, Zhao Chen, Rui-Ting Chen, Rong Qiu, Yuting Shi

Publikováno v: The Cerebellum. 21:358-367

Spinocerebellar ataxias (SCAs) are a large group of hereditary neurodegenerative diseases characterized by ataxia and dysarthria. Due to high clinical and genetic heterogeneity, many SCA families are undiagnosed. Herein, using linkage analysis, WES,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ba189b95ca0dbf37080b2611afca75ee
https://doi.org/10.1007/s12311-021-01304-0

Contributions of Cerebellar White Matter Microstructure to Social Difficulty in Nonverbal Learning Disability

Autor: Bruce Ramphal, David Pagliaccio, Lauren Thomas, Amy Margolis, Xiaofu He

Publikováno v: Cerebellum

BACKGROUND: Emerging evidence suggests that the cerebellum may contribute to variety of cognitive capacities, including social cognition. Nonverbal learning disability (NVLD) is characterized by visual-spatial and social impairment. Recent functional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f92a10de9dcb5becf94ff34c26aa5476
https://doi.org/10.1007/s12311-021-01265-4

Tractography of the Cerebellar Peduncles in Second- and Third-Trimester Fetuses

Autor: Bahram Marami, Simon K. Warfield, Fedel Machado-Rivas, Caitlin K. Rollins, Cynthia M. Ortinau, Ali Gholipour, Onur Afacan, Camilo Jaimes, Shadab Khan, Clemente Velasco-Annis

Publikováno v: AJNR Am J Neuroradiol

BACKGROUND AND PURPOSE: Little is known about microstructural development of cerebellar white matter in vivo. This study aimed to investigate developmental changes of the cerebellar peduncles in second- and third-trimester healthy fetuses using motio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de2b7fa1772aa159e718fdd1f72a5bd
https://doi.org/10.3174/ajnr.a6869

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Autor: Murtadha Al-Saady, Richard J. Huntsman, Maaike Vreeburg, Annette Bley, Aurora Pujol, Maja Hempel, Ingeborg Krägeloh-Mann, Marjo S van der Knaap, Agustí Rodríguez-Palmero, Tatjana Bierhals, Inga Harting, Stephanie Karch, Ute Moog, Nicole I. Wolf, Geneviève Bernard, Petra J. W. Pouwels, Rosalina M. L. van Spaendonk

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Neurogenetics, 21(2), 121-133. Springer Verlag
Neurogenetics, 21(2), 121-133. Springer, Cham
Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, R M L, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, M S, Pouwels, P J W & Wolf, N I 2020, ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ', Neurogenetics, vol. 21, no. 2, pp. 121-133 . https://doi.org/10.1007/s10048-019-00602-4
Neurogenetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab321e19300b1e13144f312d48ca1bd8
https://doi.org/10.1007/s10048-019-00602-4