Literature DB >> 16612642

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.

Michito Namekawa, Isabelle Nelson, Pascale Ribai, Alexandra Dürr, Elodie Denis, Giovanni Stevanin, Merle Ruberg, Alexis Brice.   

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Year:  2006        PMID： 16612642     DOI： 10.1007/s10048-006-0028-2

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


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  4 in total

1.  Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Authors:  Alexandra Dürr; Agnès Camuzat; Emilie Colin; Chantal Tallaksen; Didier Hannequin; Paula Coutinho; Bertrand Fontaine; Annick Rossi; Roger Gil; Christophe Rousselle; Merle Ruberg; Giovanni Stevanin; Alexis Brice
Journal:  Arch Neurol       Date:  2004-12

2.  Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Authors:  Naima Bouslam; Ali Benomar; Hamid Azzedine; Ahmed Bouhouche; Michito Namekawa; Stephan Klebe; Céline Charon; Alexandra Durr; Merle Ruberg; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin
Journal:  Ann Neurol       Date:  2005-04       Impact factor: 10.422

3.  SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Authors:  M Namekawa; P Ribai; I Nelson; S Forlani; F Fellmann; C Goizet; C Depienne; G Stevanin; M Ruberg; A Dürr; A Brice
Journal:  Neurology       Date:  2006-01-10       Impact factor: 9.910

4.  High sensitivity mapping of methylated cytosines.

Authors:  S J Clark; J Harrison; C L Paul; M Frommer
Journal:  Nucleic Acids Res       Date:  1994-08-11       Impact factor: 16.971
  4 in total
  3 in total

1.  NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Authors:  Stephan Klebe; Arnaud Lacour; Alexandra Durr; Tanya Stojkovic; Christel Depienne; Sylvie Forlani; Sandrine Poea-Guyon; Isabelle Vuillaume; Bernard Sablonniere; Patrick Vermersch; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2007-01-05       Impact factor: 2.660

2.  Most Used Codons per Amino Acid and per Genome in the Code of Man Compared to Other Organisms According to the Rotating Circular Genetic Code.

Authors:  Fernando Castro-Chavez
Journal:  Neuroquantology       Date:  2011-12

3.  Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Authors:  Guo-Hua Zhao; Xiao-Min Liu
Journal:  Transl Neurodegener       Date:  2017-04-04       Impact factor: 8.014
  3 in total

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