Literature DB >> 15726411

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

Gabriele Wohlrab1, Goekhan Uyanik, Claudia Gross, Ute Hehr, Jürgen Winkler, Bernhard Schmitt, Eugen Boltshauser.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15726411     DOI： 10.1007/s00431-005-1622-2

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  8 in total

1.  Polyalanine expansion of ARX associated with cryptogenic West syndrome.

Authors:  M Kato; S Das; K Petras; Y Sawaishi; W B Dobyns
Journal:  Neurology       Date:  2003-07-22       Impact factor: 9.910

2.  Mental retardation: X marks the spot.

Authors:  Marc C Patterson; Huda Y Zoghbi
Journal:  Neurology       Date:  2003-07-22       Impact factor: 9.910

3.  Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Authors:  Petter Strømme; Marie E Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Journal:  Nat Genet       Date:  2002-03-11       Impact factor: 38.330

4.  Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Authors:  Petter Strømme; Marie E Mangelsdorf; Ingrid E Scheffer; Jozef Gécz
Journal:  Brain Dev       Date:  2002-08       Impact factor: 1.961

5.  Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Authors:  Jean-Louis Mandel; Jamel Chelly
Journal:  Eur J Hum Genet       Date:  2004-09       Impact factor: 4.246

6.  ARX mutations in X-linked lissencephaly with abnormal genitalia.

Authors:  G Uyanik; L Aigner; P Martin; C Gross; D Neumann; H Marschner-Schäfer; U Hehr; J Winkler
Journal:  Neurology       Date:  2003-07-22       Impact factor: 9.910

Review 7.  The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.

Authors:  Elliott H Sherr
Journal:  Curr Opin Pediatr       Date:  2003-12       Impact factor: 2.856

8.  Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.

Authors:  Karine Poirier; Hilde Van Esch; Gaëlle Friocourt; Yoann Saillour; Nadia Bahi; Stéphanie Backer; Evelyne Souil; Laetitia Castelnau-Ptakhine; Cherif Beldjord; Fiona Francis; Thierry Bienvenu; Jamel Chelly
Journal:  Brain Res Mol Brain Res       Date:  2004-03-17
  8 in total
  9 in total

Review 1.  Genetics, molecular biology, and phenotypes of x-linked epilepsy.

Authors:  Hao Deng; Wen Zheng; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-11-22       Impact factor: 5.590

2.  Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Authors:  Cheryl Shoubridge; Alison Gardner; Charles E Schwartz; Anna Hackett; Michael Field; Jozef Gecz
Journal:  Eur J Hum Genet       Date:  2012-04-11       Impact factor: 4.246

3.  A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Authors:  Mitsuhiro Kato; Shinji Saitoh; Atsushi Kamei; Hideaki Shiraishi; Yuki Ueda; Manami Akasaka; Jun Tohyama; Noriyuki Akasaka; Kiyoshi Hayasaka
Journal:  Am J Hum Genet       Date:  2007-06-11       Impact factor: 11.025

4.  Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Authors:  Ching Moey; Scott Topper; Mary Karn; Amy Knight Johnson; Soma Das; Jorge Vidaurre; Cheryl Shoubridge
Journal:  Eur J Hum Genet       Date:  2015-08-26       Impact factor: 4.246

5.  A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.

Authors:  Maureen G Price; Jong W Yoo; Daniel L Burgess; Fang Deng; Richard A Hrachovy; James D Frost; Jeffrey L Noebels
Journal:  J Neurosci       Date:  2009-07-08       Impact factor: 6.167

6.  Identification of Arx transcriptional targets in the developing basal forebrain.

Authors:  Carl T Fulp; Ginam Cho; Eric D Marsh; Ilya M Nasrallah; Patricia A Labosky; Jeffrey A Golden
Journal:  Hum Mol Genet       Date:  2008-09-16       Impact factor: 6.150

7.  Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Authors:  Isabel Marques; Maria João Sá; Gabriela Soares; Maria do Céu Mota; Carla Pinheiro; Lisa Aguiar; Marta Amado; Christina Soares; Angelina Calado; Patrícia Dias; Ana Berta Sousa; Ana Maria Fortuna; Rosário Santos; Katherine B Howell; Monique M Ryan; Richard J Leventer; Rani Sachdev; Rachael Catford; Kathryn Friend; Tessa R Mattiske; Cheryl Shoubridge; Paula Jorge
Journal:  Mol Genet Genomic Med       Date:  2015-02-25       Impact factor: 2.183

8.  Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.

Authors:  Yousra Benmakhlouf; Renaud Touraine; Ines Harzallah; Zeineb Zian; Kaoutar Ben Makhlouf; Amina Barakat; Naima Ghailani Nourouti; Mohcine Bennani Mechita
Journal:  BMC Res Notes       Date:  2021-03-23

9.  The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Authors:  Aurore Curie; Tatjana Nazir; Amandine Brun; Yves Paulignan; Anne Reboul; Karine Delange; Anne Cheylus; Sophie Bertrand; Fanny Rochefort; Gérald Bussy; Stéphanie Marignier; Didier Lacombe; Catherine Chiron; Mireille Cossée; Bruno Leheup; Christophe Philippe; Vincent Laugel; Anne De Saint Martin; Silvia Sacco; Karine Poirier; Thierry Bienvenu; Isabelle Souville; Brigitte Gilbert-Dussardier; Eric Bieth; Didier Kauffmann; Philippe Briot; Bénédicte de Fréminville; Fabienne Prieur; Michel Till; Caroline Rooryck-Thambo; Isabelle Mortemousque; Isabelle Bobillier-Chaumont; Annick Toutain; Renaud Touraine; Damien Sanlaville; Jamel Chelly; Sonya Freeman; Jian Kong; Nouchine Hadjikhani; Randy L Gollub; Alice Roy; Vincent des Portes
Journal:  Orphanet J Rare Dis       Date:  2014-02-14       Impact factor: 4.123
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.