Literature DB >> 18446315

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

J Haberlová, K G Claeys, J Zámecník, P De Jonghe, P Seeman.   

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Year:  2008        PMID： 18446315     DOI： 10.1007/s00415-008-0598-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Authors:  Valentina Scarano; Pietro Mancini; Chiara Criscuolo; Giuseppe De Michele; Carlo Rinaldi; Tecla Tucci; Alessandra Tessa; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Alessandro Filla
Journal:  J Neurol       Date:  2005-03-08       Impact factor: 4.849

2.  Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Authors:  X Zhao; D Alvarado; S Rainier; R Lemons; P Hedera; C H Weber; T Tukel; M Apak; T Heiman-Patterson; L Ming; M Bui; J K Fink
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

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.  SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

Authors:  Peng-Peng Zhu; Cynthia Soderblom; Jung-Hwa Tao-Cheng; Julia Stadler; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2006-03-14       Impact factor: 6.150

5.  De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Authors:  Shirley Rainier; Carron Sher; Orit Reish; Donald Thomas; John K Fink
Journal:  Arch Neurol       Date:  2006-03

Review 6.  The hereditary spastic paraplegias: nine genes and counting.

Authors:  John K Fink
Journal:  Arch Neurol       Date:  2003-08

7.  Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Authors:  Neviana Ivanova; Kristl G Claeys; Tine Deconinck; Ivan Litvinenko; Albena Jordanova; Michaela Auer-Grumbach; Jana Haberlova; Ann Löfgren; Gisele Smeyers; Eva Nelis; Rudy Mercelis; Barbara Plecko; Josef Priller; Josef Zámecník; Berten Ceulemans; Anne Kjersti Erichsen; Erik Björck; Garth Nicholson; Michael W Sereda; Pavel Seeman; Ivo Kremensky; Vanio Mitev; Peter De Jonghe
Journal:  Arch Neurol       Date:  2007-05

8.  CDD: a Conserved Domain Database for protein classification.

Authors:  Aron Marchler-Bauer; John B Anderson; Praveen F Cherukuri; Carol DeWeese-Scott; Lewis Y Geer; Marc Gwadz; Siqian He; David I Hurwitz; John D Jackson; Zhaoxi Ke; Christopher J Lanczycki; Cynthia A Liebert; Chunlei Liu; Fu Lu; Gabriele H Marchler; Mikhail Mullokandov; Benjamin A Shoemaker; Vahan Simonyan; James S Song; Paul A Thiessen; Roxanne A Yamashita; Jodie J Yin; Dachuan Zhang; Stephen H Bryant
Journal:  Nucleic Acids Res       Date:  2005-01-01       Impact factor: 16.971

9.  Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

Authors:  F Dalpozzo; M G Rossetto; F Boaretto; E Sartori; M L Mostacciuolo; A Daga; M T Bassi; A Martinuzzi
Journal:  Neurology       Date:  2003-08-26       Impact factor: 9.910
  9 in total
  2 in total

Review 1.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

2.  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
  2 in total

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