Literature DB >> 17205300

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

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.   

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Year:  2007        PMID： 17205300     DOI： 10.1007/s10048-006-0074-9

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


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  6 in total

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

Authors:  Michito Namekawa; Isabelle Nelson; Pascale Ribai; Alexandra Dürr; Elodie Denis; Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Neurogenetics       Date:  2006-04-13       Impact factor: 2.660

2.  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

3.  Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

Authors:  Suqin Chen; Chun Song; Hui Guo; Pingyi Xu; Weijun Huang; Yan Zhou; Jiandong Sun; Cai-Xia Li; Yong Du; Xunhua Li; Zhuolin Liu; Deqin Geng; Patrick H Maxwell; Cheng Zhang; Yiming Wang
Journal:  Hum Mutat       Date:  2005-02       Impact factor: 4.878

4.  NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Authors:  Shirley Rainier; Jing-Hua Chai; Debra Tokarz; Robert D Nicholls; John K Fink
Journal:  Am J Hum Genet       Date:  2003-09-23       Impact factor: 11.025

Review 5.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

6.  Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Authors:  S M Sauter; W Engel; L M Neumann; J Kunze; J Neesen
Journal:  Hum Mutat       Date:  2004-01       Impact factor: 4.878
  6 in total
  9 in total

1.  TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Authors:  Maria Martinez-Lage; Laura Molina-Porcel; Dana Falcone; Leo McCluskey; Virginia M-Y Lee; Vivianna M Van Deerlin; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2012-08       Impact factor: 17.088

Review 2.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

3.  Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Authors:  Hiroyuki Ishiura; Yuji Takahashi; Toshihiro Hayashi; Kayoko Saito; Hirokazu Furuya; Mitsunori Watanabe; Miho Murata; Mikiya Suzuki; Akira Sugiura; Setsu Sawai; Kazumoto Shibuya; Naohisa Ueda; Yaeko Ichikawa; Ichiro Kanazawa; Jun Goto; Shoji Tsuji
Journal:  J Hum Genet       Date:  2014-01-23       Impact factor: 3.172

4.  Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.

Authors:  D Arkadir; A Noreau; J S Goldman; G A Rouleau; R N Alcvalay
Journal:  Eur J Neurol       Date:  2013-12-10       Impact factor: 6.089

5.  A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Authors:  Alessandra Tessa; Gabriella Silvestri; Maria Fulvia de Leva; Anna Modoni; Paola S Denora; Marcella Masciullo; M Teresa Dotti; Carlo Casali; Mariarosa A B Melone; Antonio Federico; Alessandro Filla; Filippo M Santorelli
Journal:  J Neurol       Date:  2008-06-02       Impact factor: 4.849

6.  Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.

Authors:  Cong Lu; Li-Xi Li; Hai-Lin Dong; Qiao Wei; Zhi-Jun Liu; Wang Ni; Aaron D Gitler; Zhi-Ying Wu
Journal:  J Mol Med (Berl)       Date:  2018-06-11       Impact factor: 4.599

7.  REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Authors:  Christian Beetz; Rebecca Schüle; Tine Deconinck; Khanh-Nhat Tran-Viet; Hui Zhu; Berry P H Kremer; Suzanna G M Frints; Wendy A G van Zelst-Stams; Paula Byrne; Susanne Otto; Anders O H Nygren; Jonathan Baets; Katrien Smets; Berten Ceulemans; Bernard Dan; Narasimhan Nagan; Jan Kassubek; Sven Klimpe; Thomas Klopstock; Henning Stolze; Hubert J M Smeets; Constance T R M Schrander-Stumpel; Michael Hutchinson; Bart P van de Warrenburg; Corey Braastad; Thomas Deufel; Margaret Pericak-Vance; Ludger Schöls; Peter de Jonghe; Stephan Züchner
Journal:  Brain       Date:  2008-03-05       Impact factor: 13.501

8.  Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.

Authors:  Jun Fu; Mingming Ma; Gang Li; Jiewen Zhang
Journal:  Front Genet       Date:  2022-04-08       Impact factor: 4.772

9.  Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.

Authors:  Anke Hensiek; Stephen Kirker; Evan Reid
Journal:  J Neurol       Date:  2014-12-06       Impact factor: 4.849
  9 in total

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