Literature DB >> 18500496

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

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.   

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Year:  2008        PMID： 18500496     DOI： 10.1007/s00415-008-0840-8

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


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  11 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.  Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Authors:  Clarice Patrono; Valentina Scarano; Federica Cricchi; Mariarosa A B Melone; Maria Chiriaco; Alessandro Napolitano; Alessandro Malandrini; Giuseppe De Michele; Lucia Petrozzi; Carlo Giraldi; Lucio Santoro; Serena Servidei; Carlo Casali; Alessandro Filla; Filippo M Santorelli
Journal:  Hum Mutat       Date:  2005-05       Impact factor: 4.878

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.  Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

Authors:  Christel Depienne; Estelle Fedirko; Sylvie Forlani; Cécile Cazeneuve; Pascale Ribaï; Imed Feki; Chantal Tallaksen; Karine Nguyen; Bruno Stankoff; Merle Ruberg; Giovanni Stevanin; Alexandra Durr; Alexis Brice
Journal:  J Med Genet       Date:  2006-11-10       Impact factor: 6.318

Review 5.  Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

Authors:  M Fichera; M Lo Giudice; M Falco; M Sturnio; S Amata; O Calabrese; S Bigoni; E Calzolari; M Neri
Journal:  Neurology       Date:  2004-09-28       Impact factor: 9.910

6.  Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

Authors:  Marcia A Blair; Shaochun Ma; Peter Hedera
Journal:  Neurogenetics       Date:  2006-02-18       Impact factor: 2.660

7.  A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Authors:  Evan Reid; Mark Kloos; Allison Ashley-Koch; Lori Hughes; Simon Bevan; Ingrid K Svenson; Felicia Lennon Graham; Perry C Gaskell; Andrew Dearlove; Margaret A Pericak-Vance; David C Rubinsztein; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2002-09-24       Impact factor: 11.025

Review 8.  Hereditary spastic paraplegia.

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

9.  A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

Authors:  Mariangela Lo Giudice; Marcella Neri; Michele Falco; Maurizio Sturnio; Elisa Calzolari; Daniela Di Benedetto; Marco Fichera
Journal:  Arch Neurol       Date:  2006-02

10.  Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.

Authors:  Chun-Hong Xia; Elizabeth A Roberts; Lu-Shiun Her; Xinran Liu; David S Williams; Don W Cleveland; Lawrence S B Goldstein
Journal:  J Cell Biol       Date:  2003-04-07       Impact factor: 10.539
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  17 in total

1.  Complex phenotype in an Italian family with a novel mutation in SPG3A.

Authors:  Maria Fulvia de Leva; Alessandro Filla; Chiara Criscuolo; Alessandra Tessa; Sabina Pappatà; Mario Quarantelli; Leonilda Bilo; Silvio Peluso; Antonella Antenora; Dario Longo; Filippo M Santorelli; Giuseppe De Michele
Journal:  J Neurol       Date:  2009-09-19       Impact factor: 4.849

Review 2.  Nanoparticles in the brain: a potential therapeutic system targeted to an early defect observed in many neurodegenerative diseases.

Authors:  Shermali Gunawardena
Journal:  Pharm Res       Date:  2013-04-27       Impact factor: 4.200

3.  Three routes to suppression of the neurodegenerative phenotypes caused by kinesin heavy chain mutations.

Authors:  Inna Djagaeva; Debra J Rose; Angeline Lim; Chris E Venter; Katherine M Brendza; Pangkong Moua; William M Saxton
Journal:  Genetics       Date:  2012-06-19       Impact factor: 4.562

4.  A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Authors:  Olimpia Musumeci; Maria Teresa Bassi; Anna Mazzeo; Marina Grandis; Claudia Crimella; Andrea Martinuzzi; Antonio Toscano
Journal:  Neurol Sci       Date:  2010-11-24       Impact factor: 3.307

Review 5.  Regulation of motor proteins, axonal transport deficits and adult-onset neurodegenerative diseases.

Authors:  Scott T Brady; Gerardo A Morfini
Journal:  Neurobiol Dis       Date:  2017-04-11       Impact factor: 5.996

6.  Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Authors:  Jiannan Chen; Zhe Zhao; Hongrui Shen; Qi Bing; Nan Li; Xuan Guo; Jing Hu
Journal:  BMC Neurol       Date:  2022-05-16       Impact factor: 2.903

7.  A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport.

Authors:  Lina Wang; Anthony Brown
Journal:  Mol Neurodegener       Date:  2010-11-18       Impact factor: 14.195

8.  Axonal transport deficit in a KIF5A( -/- ) mouse model.

Authors:  Kathrin N Karle; Diana Möckel; Evan Reid; Ludger Schöls
Journal:  Neurogenetics       Date:  2012-04-01       Impact factor: 2.660

Review 9.  Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.

Authors:  Christelle Tesson; Jeanette Koht; Giovanni Stevanin
Journal:  Hum Genet       Date:  2015-03-11       Impact factor: 4.132

10.  Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Authors:  Yo-Tsen Liu; Matilde Laurá; Joshua Hersheson; Alejandro Horga; Zane Jaunmuktane; Sebastian Brandner; Alan Pittman; Deborah Hughes; James M Polke; Mary G Sweeney; Christos Proukakis; John C Janssen; Michaela Auer-Grumbach; Stephan Zuchner; Kevin G Shields; Mary M Reilly; Henry Houlden
Journal:  Neurology       Date:  2014-07-09       Impact factor: 9.910
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