Literature DB >> 17992546

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.

Cécile Saint-Martin, Delphine Bouteiller, Giovanni Stevanin, Cyprian Popescu, Céline Charon, Merle Ruberg, Stéphanie Baulac, Eric LeGuern, Pierre Labauge, Christel Depienne.   

Abstract

Entities:  

Mesh：

Year:  2007        PMID： 17992546     DOI： 10.1007/s10048-007-0107-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


× No keyword cloud information.
  6 in total

1.  Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).

Authors:  P Labauge; L O Amer; M Simonetta-Moreau; F Attané; C Tannier; M Clanet; G Castelnovo; I An-Gourfinkel; Y Agid; A Brice; A Ducros; E LeGuern
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

2.  Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Authors:  M Mikami; T Yasuda; A Terao; M Nakamura; S Ueno; H Tanabe; T Tanaka; T Onuma; Y Goto; S Kaneko; A Sano
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME.

Authors:  F A de Falco; P Striano; A de Falco; S Striano; R Santangelo; A Perretti; P Balbi; M Cecconi; F Zara
Journal:  Neurology       Date:  2003-04-22       Impact factor: 9.910

Review 4.  Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features.

Authors:  Anne-Fleur van Rootselaar; Ivo N van Schaik; Arn M J M van den Maagdenberg; Johannes H T M Koelman; Petra M C Callenbach; Marina A J Tijssen
Journal:  Mov Disord       Date:  2005-06       Impact factor: 10.338

5.  A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

Authors:  Pasquale Striano; Rosanna Chifari; Salvatore Striano; Maurizio de Fusco; Maurizio Elia; Renzo Guerrini; Giorgio Casari; Maria Paola Canevini
Journal:  Epilepsia       Date:  2004-02       Impact factor: 5.864

6.  Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

Authors:  R Guerrini; P Bonanni; A Patrignani; P Brown; L Parmeggiani; P Grosse; P Brovedani; F Moro; P Aridon; R Carrozzo; G Casari
Journal:  Brain       Date:  2001-12       Impact factor: 13.501
  6 in total
  8 in total

1.  The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Authors:  Jose Felix Martí-Massó; Alberto Bergareche; Vladimir Makarov; Javier Ruiz-Martinez; Ana Gorostidi; Adolfo López de Munain; Juan Jose Poza; Pasquale Striano; Joseph D Buxbaum; Coro Paisán-Ruiz
Journal:  J Mol Med (Berl)       Date:  2013-08-20       Impact factor: 4.599

2.  Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Authors:  Lyndal Henden; Saskia Freytag; Zaid Afawi; Sara Baldassari; Samuel F Berkovic; Francesca Bisulli; Laura Canafoglia; Giorgio Casari; Douglas Ewan Crompton; Christel Depienne; Jozef Gecz; Renzo Guerrini; Ingo Helbig; Edouard Hirsch; Boris Keren; Karl Martin Klein; Pierre Labauge; Eric LeGuern; Laura Licchetta; Davide Mei; Caroline Nava; Tommaso Pippucci; Gabrielle Rudolf; Ingrid Eileen Scheffer; Pasquale Striano; Paolo Tinuper; Federico Zara; Mark Corbett; Melanie Bahlo
Journal:  Hum Genet       Date:  2016-07-01       Impact factor: 4.132

3.  Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Authors:  Francesca Madia; Pasquale Striano; Carlo Di Bonaventura; Arturo de Falco; Fabrizio A de Falco; Mario Manfredi; Giorgio Casari; Salvatore Striano; Carlo Minetti; Federico Zara
Journal:  Neurogenetics       Date:  2008-01-30       Impact factor: 2.660

4.  UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.

Authors:  Takeo Kato; Gen Tamiya; Shingo Koyama; Tomohiro Nakamura; Satoshi Makino; Shigeki Arawaka; Toru Kawanami; Ikuo Tooyama
Journal:  ISRN Neurol       Date:  2012-09-17

Review 5.  Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

Authors:  Tom van den Ende; Sarvi Sharifi; Sandra M A van der Salm; Anne-Fleur van Rootselaar
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-01-23

6.  Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Authors:  Rahel T Florian; Florian Kraft; Elsa Leitão; Sabine Kaya; Stephan Klebe; Eloi Magnin; Anne-Fleur van Rootselaar; Julien Buratti; Theresa Kühnel; Christopher Schröder; Sebastian Giesselmann; Nikolai Tschernoster; Janine Altmueller; Anaide Lamiral; Boris Keren; Caroline Nava; Delphine Bouteiller; Sylvie Forlani; Ludmila Jornea; Regina Kubica; Tao Ye; Damien Plassard; Bernard Jost; Vincent Meyer; Jean-François Deleuze; Yannick Delpu; Mario D M Avarello; Lisanne S Vijfhuizen; Gabrielle Rudolf; Edouard Hirsch; Thessa Kroes; Philipp S Reif; Felix Rosenow; Christos Ganos; Marie Vidailhet; Lionel Thivard; Alexandre Mathieu; Thomas Bourgeron; Ingo Kurth; Haloom Rafehi; Laura Steenpass; Bernhard Horsthemke; Eric LeGuern; Karl Martin Klein; Pierre Labauge; Mark F Bennett; Melanie Bahlo; Jozef Gecz; Mark A Corbett; Marina A J Tijssen; Arn M J M van den Maagdenberg; Christel Depienne
Journal:  Nat Commun       Date:  2019-10-29       Impact factor: 14.919

7.  Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Authors:  Mark A Corbett; Thessa Kroes; Liana Veneziano; Mark F Bennett; Rahel Florian; Amy L Schneider; Antonietta Coppola; Laura Licchetta; Silvana Franceschetti; Antonio Suppa; Aaron Wenger; Davide Mei; Manuela Pendziwiat; Sabine Kaya; Massimo Delledonne; Rachel Straussberg; Luciano Xumerle; Brigid Regan; Douglas Crompton; Anne-Fleur van Rootselaar; Anthony Correll; Rachael Catford; Francesca Bisulli; Shreyasee Chakraborty; Sara Baldassari; Paolo Tinuper; Kirston Barton; Shaun Carswell; Martin Smith; Alfredo Berardelli; Renee Carroll; Alison Gardner; Kathryn L Friend; Ilan Blatt; Michele Iacomino; Carlo Di Bonaventura; Salvatore Striano; Julien Buratti; Boris Keren; Caroline Nava; Sylvie Forlani; Gabrielle Rudolf; Edouard Hirsch; Eric Leguern; Pierre Labauge; Simona Balestrini; Josemir W Sander; Zaid Afawi; Ingo Helbig; Hiroyuki Ishiura; Shoji Tsuji; Sanjay M Sisodiya; Giorgio Casari; Lynette G Sadleir; Riaan van Coller; Marina A J Tijssen; Karl Martin Klein; Arn M J M van den Maagdenberg; Federico Zara; Renzo Guerrini; Samuel F Berkovic; Tommaso Pippucci; Laura Canafoglia; Melanie Bahlo; Pasquale Striano; Ingrid E Scheffer; Francesco Brancati; Christel Depienne; Jozef Gecz
Journal:  Nat Commun       Date:  2019-10-29       Impact factor: 14.919

Review 8.  Molecular Mechanisms in Pentanucleotide Repeat Diseases.

Authors:  Joana R Loureiro; Ana F Castro; Ana S Figueiredo; Isabel Silveira
Journal:  Cells       Date:  2022-01-08       Impact factor: 6.600
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.