Literature DB >> 28566166

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

Lorena Travaglini1, Emanuele Bellacchio2, Chiara Aiello3, Stefano Pro4, Enrico Bertini3, Francesco Nicita3.   

Abstract

Entities:  

Keywords:  Ataxia; CAPN1; Calpains; Central nervous system; Hereditary spastic paraplegia; Targeted resequencing

Mesh：

Substances：

Year:  2017        PMID： 28566166     DOI： 10.1016/j.jns.2017.05.014

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  7 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.  The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Authors:  Lorena Travaglini; Chiara Aiello; Fabrizia Stregapede; Adele D'Amico; Viola Alesi; Andrea Ciolfi; Alessandro Bruselles; Michela Catteruccia; Simone Pizzi; Ginevra Zanni; Sara Loddo; Sabina Barresi; Gessica Vasco; Marco Tartaglia; Enrico Bertini; Francesco Nicita
Journal:  Neurogenetics       Date:  2018-04-24       Impact factor: 2.660

3.  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

4.  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 5.  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

6.  Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.

Authors:  Julian E Alecu; Afshin Saffari; Hellen Jumo; Marvin Ziegler; Oleksandr Strelko; Catherine A Brownstein; Joseph Gonzalez-Heydrich; Lance H Rodan; Mark P Gorman; Mustafa Sahin; Darius Ebrahimi-Fakhari
Journal:  Ann Clin Transl Neurol       Date:  2022-03-16       Impact factor: 4.511

7.  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
  7 in total

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