Literature DB >> 28321562

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.

Vera Tadic1,2, Christine Klein1, Frauke Hinrichs1, Alexander Münchau1, Katja Lohmann1, Norbert Brüggemann3,4.   

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Year:  2017        PMID： 28321562     DOI： 10.1007/s00415-017-8464-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

Review 1.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

2.  Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Authors:  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
Journal:  Am J Hum Genet       Date:  2016-05-05       Impact factor: 11.025

Review 3.  A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.

Authors:  N Wadia; J Pang; J Desai; A Mankodi; M Desai; S Chamberlain
Journal:  Brain       Date:  1998-12       Impact factor: 13.501

4.  Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Authors:  A Bernot; C da Silva; J L Petit; C Cruaud; C Caloustian; V Castet; M Ahmed-Arab; C Dross; M Dupont; D Cattan; N Smaoui; C Dodé; C Pêcheux; B Nédelec; J Medaxian; M Rozenbaum; I Rosner; M Delpech; G Grateau; J Demaille; J Weissenbach; I Touitou
Journal:  Hum Mol Genet       Date:  1998-08       Impact factor: 6.150

5.  Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.

Authors:  Yubin Wang; Joshua Hersheson; Dulce Lopez; Monia Hammer; Yan Liu; Ka-Hung Lee; Vanessa Pinto; Jeff Seinfeld; Sarah Wiethoff; Jiandong Sun; Rim Amouri; Faycal Hentati; Neema Baudry; Jennifer Tran; Andrew B Singleton; Marie Coutelier; Alexis Brice; Giovanni Stevanin; Alexandra Durr; Xiaoning Bi; Henry Houlden; Michel Baudry
Journal:  Cell Rep       Date:  2016-06-16       Impact factor: 9.423

6.  Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.

Authors:  Oliver P Forman; Luisa De Risio; Cathryn S Mellersh
Journal:  PLoS One       Date:  2013-05-31       Impact factor: 3.240
  6 in total
  6 in total

Review 1.  Update on the Genetics of Spastic Paraplegias.

Authors:  Maxime Boutry; Sara Morais; Giovanni Stevanin
Journal:  Curr Neurol Neurosci Rep       Date:  2019-02-28       Impact factor: 5.081

2.  RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.

Authors:  Catherine A Brownstein; Richard S Smith; Lance H Rodan; Mark P Gorman; Margaret A Hojlo; Emily A Garvey; Jianqiao Li; Kristin Cabral; Joshua J Bowen; Abhijit S Rao; Casie A Genetti; Devon Carroll; Emma A Deaso; Pankaj B Agrawal; Jill A Rosenfeld; Weimin Bi; Jennifer Howe; Dimitri J Stavropoulos; Adam W Hansen; Hesham M Hamoda; Ferne Pinard; Annmarie Caracansi; Christopher A Walsh; Eugene J D'Angelo; Alan H Beggs; Mehdi Zarrei; Richard A Gibbs; Stephen W Scherer; David C Glahn; Joseph Gonzalez-Heydrich
Journal:  Mol Psychiatry       Date:  2021-02-17       Impact factor: 15.992

3.  Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

Authors:  Qiao Wei; Hai-Lin Dong; Li-Ying Pan; Cong-Xin Chen; Yang-Tian Yan; Rou-Min Wang; Hong-Fu Li; Zhi-Jun Liu; Qing-Qing Tao; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2019-06-26       Impact factor: 8.014

Review 4.  Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.

Authors:  Fang Peng; Yi-Min Sun; Chao Quan; Jian Wang; Jian-Jun Wu
Journal:  Orphanet J Rare Dis       Date:  2019-04-25       Impact factor: 4.123

5.  Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.

Authors:  Cemile Kocoglu; Asli Gundogdu; Gulsen Kocaman; Pinar Kahraman-Koytak; Kayihan Uluc; Gunes Kiziltan; Ahmet Okay Caglayan; Kaya Bilguvar; Atay Vural; A Nazli Basak
Journal:  Neurol Genet       Date:  2018-01-18

6.  CAPN1 promotes malignant behavior and erlotinib resistance mediated by phosphorylation of c-Met and PIK3R2 via degrading PTPN1 in lung adenocarcinoma.

Authors:  Yichuan Chen; Jingqun Tang; Ting Lu; Fang Liu
Journal:  Thorac Cancer       Date:  2020-05-12       Impact factor: 3.500
  6 in total

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