Literature DB >> 24782201

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

Christopher P Barnett1, Emily J Todd, Royston Ong, Mark R Davis, Vanessa Atkinson, Richard Allcock, Nigel Laing, Gianina Ravenscroft.   

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Year:  2014        PMID： 24782201     DOI： 10.1002/ajmg.a.36342

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics.

Authors:  Romain Banchereau; Alma-Martina Cepika; Jacques Banchereau; Virginia Pascual
Journal:  Annu Rev Immunol       Date:  2017-01-30       Impact factor: 28.527

Review 2.  New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis.

Authors:  Sumiko Kiryu-Seo; Kenichi Nagata; Takaomi C Saido; Hiroshi Kiyama
Journal:  Neurochem Res       Date:  2018-10-24       Impact factor: 3.996

3.  Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.

Authors:  Kenichi Nagata; Mika Takahashi; Sumiko Kiryu-Seo; Hiroshi Kiyama; Takaomi C Saido
Journal:  Acta Neuropathol Commun       Date:  2017-11-13       Impact factor: 7.801

4.  A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Authors:  Viola Alesi; Francesca Sessini; Silvia Genovese; Giusy Calvieri; Ester Sallicandro; Laura Ciocca; Maura Mingoia; Antonio Novelli; Paolo Moi
Journal:  Int J Mol Sci       Date:  2021-02-20       Impact factor: 5.923

5.  Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Authors:  Emily J Todd; Kyle S Yau; Royston Ong; Jennie Slee; George McGillivray; Christopher P Barnett; Goknur Haliloglu; Beril Talim; Zuhal Akcoren; Ariana Kariminejad; Anita Cairns; Nigel F Clarke; Mary-Louise Freckmann; Norma B Romero; Denise Williams; Caroline A Sewry; Alison Colley; Monique M Ryan; Cathy Kiraly-Borri; Padma Sivadorai; Richard J N Allcock; David Beeson; Susan Maxwell; Mark R Davis; Nigel G Laing; Gianina Ravenscroft
Journal:  Orphanet J Rare Dis       Date:  2015-11-17       Impact factor: 4.123
  5 in total

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