Literature DB >> 32007754

A novel variant in the spatacsin gene causing SPG11 in a Malian family.

Guida Landouré1, Kékouta Dembélé2, Salimata Diarra3, Lassana Cissé2, Oumar Samassékou4, Abdoulaye Bocoum4, Abdoulaye Yalcouyé4, Moussa Traoré5, Kenneth H Fischbeck6, Cheick O Guinto5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 32007754      PMCID： PMC8312886          DOI： 10.1016/j.jns.2020.116675

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


× No keyword cloud information.
  8 in total

Review 1.  Hereditary spastic paraplegias.

Authors:  A E Harding
Journal:  Semin Neurol       Date:  1993-12       Impact factor: 3.420

2.  Exome sequencing reveals SPG11 mutations causing juvenile ALS.

Authors:  Hussein Daoud; Sirui Zhou; Anne Noreau; Mike Sabbagh; Veronique Belzil; Alexandre Dionne-Laporte; Christine Tranchant; Patrick Dion; Guy A Rouleau
Journal:  Neurobiol Aging       Date:  2011-12-10       Impact factor: 4.673

3.  Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Authors:  Guida Landouré; Peng-Peng Zhu; Charles M Lourenço; Janel O Johnson; Camilo Toro; Katherine V Bricceno; Carlo Rinaldi; Katherine G Meilleur; Modibo Sangaré; Oumarou Diallo; Tyler M Pierson; Hiroyuki Ishiura; Shoji Tsuji; Nichole Hein; John K Fink; Marion Stoll; Garth Nicholson; Michael A Gonzalez; Fiorella Speziani; Alexandra Dürr; Giovanni Stevanin; Leslie G Biesecker; John Accardi; Dennis M D Landis; William A Gahl; Bryan J Traynor; Wilson Marques; Stephan Züchner; Craig Blackstone; Kenneth H Fischbeck; Barrington G Burnett
Journal:  Hum Mutat       Date:  2013-08-12       Impact factor: 4.878

4.  Hereditary spastic paraplegia type 35 in a family from Mali.

Authors:  Guida Landouré; Kékouta Dembélé; Lassana Cissé; Oumar Samassékou; Salimata Diarra; Abdoulaye Bocoum; Mohamede E Dembélé; Kenneth H Fischbeck; Cheick O Guinto
Journal:  Am J Med Genet A       Date:  2019-05-14       Impact factor: 2.802

5.  Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Authors:  Arianna Guidubaldi; Carla Piano; Filippo M Santorelli; Gabriella Silvestri; Martina Petracca; Alessandra Tessa; Anna Rita Bentivoglio
Journal:  Mov Disord       Date:  2011-03-04       Impact factor: 10.338

6.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Authors:  Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; José Loureiro; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez-Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; José Vale; Paula Coutinho; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2007-12-13       Impact factor: 13.501

7.  Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Authors:  Anne Kjersti Erichsen; Jeanette Koht; Asbjørg Stray-Pedersen; Michael Abdelnoor; Chantal M E Tallaksen
Journal:  Brain       Date:  2009-03-31       Impact factor: 13.501

8.  A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Authors:  Cheick O Guinto; Salimata Diarra; Salimata Diallo; Lassana Cissé; Thomas Coulibaly; Seybou H Diallo; Abdoulaye Taméga; Ke-Lian Chen; Alice B Schindler; Koumba Bagayoko; Assiatou Simaga; Craig Blackstone; Kenneth H Fischbeck; Guida Landouré
Journal:  Ann Clin Transl Neurol       Date:  2017-03-21       Impact factor: 4.511
  8 in total
  1 in total

1.  Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.

Authors:  Aimé Lumaka; Nadia Carstens; Koenraad Devriendt; Amanda Krause; Benard Kulohoma; Judit Kumuthini; Gerrye Mubungu; John Mukisa; Melissa Nel; Timothy O Olanrewaju; Zané Lombard; Guida Landouré
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.