Literature DB >> 1552559

Distal spinal muscular atrophy with vocal cord paralysis.

C Pridmore1, M Baraitser, E M Brett, A E Harding.   

Abstract

We describe a family with distal spinal muscular atrophy and vocal cord paralysis, similar to the condition reported by Young and Harper in 1980. Both pedigrees are consistent with autosomal dominant inheritance.

Entities:  

Mesh：

Year:  1992        PMID： 1552559      PMCID： PMC1015897          DOI： 10.1136/jmg.29.3.197

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  [Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome].

Authors:  G Serratrice; J F Pellissier; J L Gastaut; C Desnuelle
Journal:  Rev Neurol (Paris)       Date:  1984       Impact factor: 2.607

2.  Modification of vasopressin- and angiotensin II- induced changes by calcium antagonists in the peripheral circulation of anaesthetized rabbits.

Authors:  R P Hof
Journal:  Br J Pharmacol       Date:  1985-05       Impact factor: 8.739
  2 in total
  6 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.  Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

Authors:  M McEntagart; N Norton; H Williams; M D Teare; M Dunstan; P Baker; H Houlden; M Reilly; N Wood; P S Harper; P A Futreal; N Williams; N Rahman
Journal:  Am J Hum Genet       Date:  2001-04-04       Impact factor: 11.025

3.  Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

Authors:  Imke Puls; Shin J Oh; Charlotte J Sumner; Karen E Wallace; Mary Kay Floeter; Eric A Mann; William R Kennedy; Gwen Wendelschafer-Crabb; Alexander Vortmeyer; Richard Powers; Kimberly Finnegan; Erika L F Holzbaur; Kenneth H Fischbeck; Christy L Ludlow
Journal:  Ann Neurol       Date:  2005-05       Impact factor: 10.422

4.  Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Authors:  Stéphanie Bauché; Seana O'Regan; Yoshiteru Azuma; Fanny Laffargue; Grace McMacken; Damien Sternberg; Guy Brochier; Céline Buon; Nassima Bouzidi; Ana Topf; Emmanuelle Lacène; Ganaelle Remerand; Anne-Marie Beaufrere; Céline Pebrel-Richard; Julien Thevenon; Salima El Chehadeh-Djebbar; Laurence Faivre; Yannis Duffourd; Federica Ricci; Tiziana Mongini; Chiara Fiorillo; Guja Astrea; Carmen Magdalena Burloiu; Niculina Butoianu; Carmen Sandu; Laurent Servais; Gisèle Bonne; Isabelle Nelson; Isabelle Desguerre; Marie-Christine Nougues; Benoit Bœuf; Norma Romero; Jocelyn Laporte; Anne Boland; Doris Lechner; Jean-François Deleuze; Bertrand Fontaine; Laure Strochlic; Hanns Lochmuller; Bruno Eymard; Michèle Mayer; Sophie Nicole
Journal:  Am J Hum Genet       Date:  2016-08-25       Impact factor: 11.025

5.  Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Authors:  Haicui Wang; Claire G Salter; Osama Refai; Holly Hardy; Katy E S Barwick; Ugur Akpulat; Malin Kvarnung; Barry A Chioza; Gaurav Harlalka; Fulya Taylan; Thomas Sejersen; Jane Wright; Holly H Zimmerman; Mert Karakaya; Burkhardt Stüve; Joachim Weis; Ulrike Schara; Mark A Russell; Omar A Abdul-Rahman; John Chilton; Randy D Blakely; Emma L Baple; Sebahattin Cirak; Andrew H Crosby
Journal:  Brain       Date:  2017-11-01       Impact factor: 13.501

6.  Defective presynaptic choline transport underlies hereditary motor neuropathy.

Authors:  Katy E S Barwick; Jane Wright; Saeed Al-Turki; Meriel M McEntagart; Ajith Nair; Barry Chioza; Ali Al-Memar; Hamid Modarres; Mary M Reilly; Katherine J Dick; Alicia M Ruggiero; Randy D Blakely; Matt E Hurles; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2012-11-08       Impact factor: 11.025
  6 in total

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