Literature DB >> 26063657

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Alexander M Rossor1, Emily C Oates2, Hannah K Salter3, Yang Liu3, Sinead M Murphy4, Rebecca Schule5, Michael A Gonzales6, Mariacristina Scoto7, Rahul Phadke8, Caroline A Sewry7, Henry Houlden8, Albena Jordanova9, Iyailo Tournev10, Teodora Chamova11, Ivan Litvinenko12, Stephan Zuchner6, David N Herrmann13, Julian Blake14, Janet E Sowden15, Gyuda Acsadi16, Michael L Rodriguez17, Manoj P Menezes2, Nigel F Clarke2, Michaela Auer Grumbach18, Simon L Bullock3, Francesco Muntoni19, Mary M Reilly8, Kathryn N North20.   

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Year:  2015        PMID: 26063657      PMCID: PMC4719680          DOI: 10.1093/brain/awv160

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  7 in total

1.  Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

Authors:  Matthis Synofzik; Lilian A Martinez-Carrera; Tobias Lindig; Ludger Schöls; Brunhilde Wirth
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-12-11       Impact factor: 10.154

2.  Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

Authors:  Kristien Peeters; Ivan Litvinenko; Bob Asselbergh; Leonardo Almeida-Souza; Teodora Chamova; Thomas Geuens; Elke Ydens; Magdalena Zimoń; Joy Irobi; Els De Vriendt; Vicky De Winter; Tinne Ooms; Vincent Timmerman; Ivailo Tournev; Albena Jordanova
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

3.  Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Authors:  Alexander M Rossor; Emily C Oates; Hannah K Salter; Yang Liu; Sinead M Murphy; Rebecca Schule; Michael A Gonzalez; Mariacristina Scoto; Rahul Phadke; Caroline A Sewry; Henry Houlden; Albena Jordanova; Iyailo Tournev; Teodora Chamova; Ivan Litvinenko; Stephan Zuchner; David N Herrmann; Julian Blake; Janet E Sowden; Gyuda Acsadi; Michael L Rodriguez; Manoj P Menezes; Nigel F Clarke; Michaela Auer Grumbach; Simon L Bullock; Francesco Muntoni; Mary M Reilly; Kathryn N North
Journal:  Brain       Date:  2014-12-14       Impact factor: 13.501

4.  Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Authors:  Kornelia Neveling; Lilian A Martinez-Carrera; Irmgard Hölker; Angelien Heister; Aad Verrips; Seyyed Mohsen Hosseini-Barkooie; Christian Gilissen; Sascha Vermeer; Maartje Pennings; Rowdy Meijer; Margot te Riele; Catharina J M Frijns; Oksana Suchowersky; Linda MacLaren; Sabine Rudnik-Schöneborn; Richard J Sinke; Klaus Zerres; R Brian Lowry; Henny H Lemmink; Lutz Garbes; Joris A Veltman; Helenius J Schelhaas; Hans Scheffer; Brunhilde Wirth
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

5.  Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Authors:  Mariacristina Scoto; Alexander M Rossor; Matthew B Harms; Sebahattin Cirak; Mattia Calissano; Stephanie Robb; Adnan Y Manzur; Amaia Martínez Arroyo; Aida Rodriguez Sanz; Sahar Mansour; Penny Fallon; Irene Hadjikoumi; Andrea Klein; Michele Yang; Marianne De Visser; W C G Truus Overweg-Plandsoen; Frank Baas; J Paul Taylor; Michael Benatar; Anne M Connolly; Muhammad T Al-Lozi; John Nixon; Christian G E L de Goede; A Reghan Foley; Catherine Mcwilliam; Matthew Pitt; Caroline Sewry; Rahul Phadke; Majid Hafezparast; W K Kling Chong; Eugenio Mercuri; Robert H Baloh; Mary M Reilly; Francesco Muntoni
Journal:  Neurology       Date:  2015-01-21       Impact factor: 9.910

6.  The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Authors:  Boglarka Bansagi; Helen Griffin; Venkateswaran Ramesh; Jennifer Duff; Angela Pyle; Patrick F Chinnery; Rita Horvath
Journal:  Brain       Date:  2015-06-10       Impact factor: 13.501

7.  Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Authors:  Emily C Oates; Alexander M Rossor; Majid Hafezparast; Michael Gonzalez; Fiorella Speziani; Daniel G MacArthur; Monkol Lek; Ellen Cottenie; Mariacristina Scoto; A Reghan Foley; Matthew Hurles; Henry Houlden; Linda Greensmith; Michaela Auer-Grumbach; Thomas R Pieber; Tim M Strom; Rebecca Schule; David N Herrmann; Janet E Sowden; Gyula Acsadi; Manoj P Menezes; Nigel F Clarke; Stephan Züchner; Francesco Muntoni; Kathryn N North; Mary M Reilly
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

  7 in total

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