Literature DB >> 35020098

A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.

Haitian Nan1, Tomoko Mizuno2, Atsuko Arisaka3, Kenshi Sei3, Yoshihisa Takiyama4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2022        PMID： 35020098     DOI： 10.1007/s10072-022-05879-2

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  3 in total

1.  De novo SPAST mutations may cause a complex SPG4 phenotype.

Authors:  Jolanda H Schieving; Susanne T de Bot; Laura A van de Pol; Nicole I Wolf; Eva H Brilstra; Suzanna G Frints; Judith van Gaalen; Mala Misra-Isrie; Maartje Pennings; Corien C Verschuuren-Bemelmans; Erik-Jan Kamsteeg; Bart P van de Warrenburg; Michèl A Willemsen
Journal:  Brain       Date:  2019-07-01       Impact factor: 13.501

2.  Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Authors:  Livia Parodi; Silvia Fenu; Mathieu Barbier; Guillaume Banneau; Charles Duyckaerts; Sophie Tezenas du Montcel; Marie-Lorraine Monin; Samia Ait Said; Justine Guegan; Chantal M E Tallaksen; Bertrand Sablonniere; Alexis Brice; Giovanni Stevanin; Christel Depienne; Alexandra Durr
Journal:  Brain       Date:  2018-12-01       Impact factor: 13.501

3.  Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.

Authors:  Kishore R Kumar; Carolyn M Sue; David Burke; Karl Ng
Journal:  Clin Neurophysiol       Date:  2011-12-21       Impact factor: 3.708
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.