Literature DB >> 30862385

Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis.

S Urtiaga Valle1, B Fournier Gil2, M S Ramiro León2, B Martínez Menéndez3.   

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Year:  2019        PMID: 30862385     DOI: 10.1016/j.nrl.2018.07.001

Source DB:  PubMed          Journal:  Neurologia (Engl Ed)        ISSN: 2173-5808


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  2 in total

1.  Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Authors:  Stefania Della Vecchia; Alessandra Tessa; Claudia Dosi; Jacopo Baldacci; Rosa Pasquariello; Antonella Antenora; Guja Astrea; Maria Teresa Bassi; Roberta Battini; Carlo Casali; Ettore Cioffi; Greta Conti; Giovanna De Michele; Anna Rita Ferrari; Alessandro Filla; Chiara Fiorillo; Carlo Fusco; Salvatore Gallone; Chiara Germiniasi; Renzo Guerrini; Shalom Haggiag; Diego Lopergolo; Andrea Martinuzzi; Federico Melani; Andrea Mignarri; Elena Panzeri; Antonella Pini; Anna Maria Pinto; Francesca Pochiero; Guido Primiano; Elena Procopio; Alessandra Renieri; Romina Romaniello; Cristina Sancricca; Serenella Servidei; Carlotta Spagnoli; Chiara Ticci; Anna Rubegni; Filippo Maria Santorelli
Journal:  J Neurol       Date:  2021-09-06       Impact factor: 4.849

2.  Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.

Authors:  Ximena Montenegro-Garreaud; Adam W Hansen; Michael M Khayat; Varuna Chander; Christopher M Grochowski; Yunyun Jiang; He Li; Tadahiro Mitani; Elena Kessler; Joy Jayaseelan; Hua Shen; Alper Gezdirici; Davut Pehlivan; Qingchang Meng; Jill A Rosenfeld; Shalini N Jhangiani; Suneeta Madan-Khetarpal; Daryl A Scott; Hugo Abarca-Barriga; Milana Trubnykova; Marie-Claude Gingras; Donna M Muzny; Jennifer E Posey; Pengfei Liu; James R Lupski; Richard A Gibbs
Journal:  Hum Mutat       Date:  2020-10-08       Impact factor: 4.878

  2 in total

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