Literature DB >> 27177996

Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.

Manu E Jokela1,2, Juho Joutsa3, Bjarne Udd4.   

Abstract

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Year:  2016        PMID： 27177996     DOI： 10.1007/s00415-016-8134-z

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


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  4 in total

1.  Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

Authors:  Kathrin Müller; Peter M Andersen; Annemarie Hübers; Nicolai Marroquin; Alexander E Volk; Karin M Danzer; Thomas Meitinger; Albert C Ludolph; Tim M Strom; Jochen H Weishaupt
Journal:  Brain       Date:  2014-08-11       Impact factor: 13.501

2.  Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Authors:  Roula Ghaoui; Johanna Palmio; Janice Brewer; Monkol Lek; Merrilee Needham; Anni Evilä; Peter Hackman; Per-Harald Jonson; Sini Penttilä; Anna Vihola; Sanna Huovinen; Mikaela Lindfors; Ryan L Davis; Leigh Waddell; Simran Kaur; Con Yiannikas; Kathryn North; Nigel Clarke; Daniel G MacArthur; Carolyn M Sue; Bjarne Udd
Journal:  Neurology       Date:  2015-12-30       Impact factor: 9.910

3.  Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Authors:  Sini Penttilä; Manu Jokela; Heidi Bouquin; Anna Maija Saukkonen; Jari Toivanen; Bjarne Udd
Journal:  Ann Neurol       Date:  2014-12-12       Impact factor: 10.422

4.  CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

Authors:  Mari Auranen; Emil Ylikallio; Maria Shcherbii; Anders Paetau; Sari Kiuru-Enari; Jussi P Toppila; Henna Tyynismaa
Journal:  Neurol Genet       Date:  2015-03-26
  4 in total
  1 in total

1.  Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.

Authors:  Emmanuelle C Genin; Sylvie Bannwarth; Françoise Lespinasse; Bernardo Ortega-Vila; Konstantina Fragaki; Kie Itoh; Elodie Villa; Sandra Lacas-Gervais; Manu Jokela; Mari Auranen; Emil Ylikallio; Alessandra Mauri-Crouzet; Henna Tyynismaa; Anna Vihola; Gaelle Augé; Charlotte Cochaud; Hiromi Sesaki; Jean-Ehrland Ricci; Bjarne Udd; Cristofol Vives-Bauza; Véronique Paquis-Flucklinger
Journal:  Neurobiol Dis       Date:  2018-08-06       Impact factor: 5.996
  1 in total

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