Literature DB >> 34999958

Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A.

Halil Onder1, Atay Vural2, Neslihan Duzkale3, Bilge Kocer4, Selcuk Comoglu4.   

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Year:  2022        PMID： 34999958     DOI： 10.1007/s00415-021-10924-9

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


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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.  Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Authors:  Lia Boyle; Lu Rao; Simranpreet Kaur; Xiao Fan; Caroline Mebane; Laura Hamm; Andrew Thornton; Jared T Ahrendsen; Matthew P Anderson; John Christodoulou; Arne Gennerich; Yufeng Shen; Wendy K Chung
Journal:  HGG Adv       Date:  2021-01-30
  2 in total

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