Literature DB >> 27259058

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Ziv Gan-Or, Naima Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B Laurent, Daniel Rochefort, Dan Spiegelman, Alexandre Dionne-Laporte, Anna Szuto, Meijiang Liao, Denise A Figlewicz, Ahmed Bouhouche, Ali Benomar, Mohamed Yahyaoui, Reda Ouazzani, Grace Yoon, Nicolas Dupré, Oksana Suchowersky, Francois V Bolduc, J Alex Parker, Patrick A Dion, Pierre Drapeau, Guy A Rouleau, Bouchra Ouled Amar Bencheikh.   

Abstract

Entities:  

Year:  2016        PMID： 27259058      PMCID： PMC4908182          DOI： 10.1016/j.ajhg.2016.05.009

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.

Authors:  Jesus Eduardo Garcia-Berlanga; Mariana Moscovich; Isaac Jair Palacios; Alejandro Banegas-Lagos; Augusto Rojas-Martinez; Daniel Martinez-Ramirez
Journal:  Case Rep Neurol Med       Date:  2019-07-01

Review 2.  The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Authors:  Marie Beaudin; Antoni Matilla-Dueñas; Bing-Weng Soong; Jose Luiz Pedroso; Orlando G Barsottini; Hiroshi Mitoma; Shoji Tsuji; Jeremy D Schmahmann; Mario Manto; Guy A Rouleau; Christopher Klein; Nicolas Dupre
Journal:  Cerebellum       Date:  2019-12       Impact factor: 3.847

Review 3.  Zebrafish Is a Powerful Tool for Precision Medicine Approaches to Neurological Disorders.

Authors:  Katarzyna Ochenkowska; Aveeva Herold; Éric Samarut
Journal:  Front Mol Neurosci       Date:  2022-07-06       Impact factor: 6.261

4.  Ttm50 facilitates calpain activation by anchoring it to calcium stores and increasing its sensitivity to calcium.

Authors:  Elsayed Metwally; Guoli Zhao; Qifu Wang; Yong Q Zhang
Journal:  Cell Res       Date:  2020-08-26       Impact factor: 25.617

5.  Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae.

Authors:  Meijiang Liao; Uday Kundap; Richard E Rosch; Dominic R W Burrows; Martin P Meyer; Bouchra Ouled Amar Bencheikh; Patrick Cossette; Éric Samarut
Journal:  Dis Model Mech       Date:  2019-11-11       Impact factor: 5.758
  5 in total

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