Literature DB >> 4056805

A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

P Fleury, G Hageman.   

Abstract

Of a family consisting of 54 members, 44 were examined. Twenty-one showed signs of a clinically non-progressive congenital lower motor neuron disorder restricted to the lower part of the body, which resulted in arthrogryposis in 15 cases. The mode of inheritance is autosomal dominant with very varied expression of the gene.

Entities:  

Mesh：

Year:  1985        PMID： 4056805      PMCID： PMC1028545          DOI： 10.1136/jnnp.48.10.1037

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  10 in total

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  10 in total
  11 in total

Review 1.  Unraveling the genetics of distal hereditary motor neuronopathies.

Authors:  Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

2.  Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Authors:  Magdalena Zimoń; Jonathan Baets; Michaela Auer-Grumbach; José Berciano; Antonio Garcia; Eduardo Lopez-Laso; Luciano Merlini; David Hilton-Jones; Meriel McEntagart; Andrew H Crosby; Nina Barisic; Eugen Boltshauser; Christopher E Shaw; Guida Landouré; Christy L Ludlow; Rachelle Gaudet; Henry Houlden; Mary M Reilly; Kenneth H Fischbeck; Charlotte J Sumner; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Journal:  Brain       Date:  2010-05-11       Impact factor: 13.501

3.  Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

Authors:  José Berciano; Jonathan Baets; Elena Gallardo; Magdalena Zimoń; Antonio García; Eduardo López-Laso; Onofre Combarros; Jon Infante; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Journal:  J Neurol       Date:  2011-02-19       Impact factor: 4.849

4.  Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Authors:  M B Harms; P Allred; R Gardner; J A Fernandes Filho; J Florence; A Pestronk; M Al-Lozi; R H Baloh
Journal:  Neurology       Date:  2010-08-10       Impact factor: 9.910

Review 5.  Clinical genetics of Charcot-Marie-Tooth disease.

Authors:  Yujiro Higuchi; Hiroshi Takashima
Journal:  J Hum Genet       Date:  2022-03-18       Impact factor: 3.755

6.  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

7.  Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

Authors:  G Hageman; V T Ramaekers; B G Hilhorst; A R Rozeboom
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-04       Impact factor: 10.154

8.  Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Authors:  Michaela Auer-Grumbach; Andrea Olschewski; Lea Papić; Hannie Kremer; Meriel E McEntagart; Sabine Uhrig; Carina Fischer; Eleonore Fröhlich; Zoltán Bálint; Bi Tang; Heimo Strohmaier; Hanns Lochmüller; Beate Schlotter-Weigel; Jan Senderek; Angelika Krebs; Katherine J Dick; Richard Petty; Cheryl Longman; Neil E Anderson; George W Padberg; Helenius J Schelhaas; Conny M A van Ravenswaaij-Arts; Thomas R Pieber; Andrew H Crosby; Christian Guelly
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

9.  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

10.  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
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