Literature DB >> 15184642

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

A D'Amico1, A Tessa, A Sabino, E Bertini, F M Santorelli, S Servidei.   

Abstract

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Year:  2004        PMID： 15184642     DOI： 10.1212/01.wnl.0000127698.88895.85

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  12 in total

Review 1.  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

2.  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

3.  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Authors:  Gaia Novarino; Ali G Fenstermaker; Maha S Zaki; Matan Hofree; Jennifer L Silhavy; Andrew D Heiberg; Mostafa Abdellateef; Basak Rosti; Eric Scott; Lobna Mansour; Amira Masri; Hulya Kayserili; Jumana Y Al-Aama; Ghada M H Abdel-Salam; Ariana Karminejad; Majdi Kara; Bulent Kara; Bita Bozorgmehri; Tawfeg Ben-Omran; Faezeh Mojahedi; Iman Gamal El Din Mahmoud; Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Laure Raymond; Sylvie Forlani; Massimo Mascaro; Laila Selim; Nabil Shehata; Nasir Al-Allawi; P S Bindu; Matloob Azam; Murat Gunel; Ahmet Caglayan; Kaya Bilguvar; Aslihan Tolun; Mahmoud Y Issa; Jana Schroth; Emily G Spencer; Rasim O Rosti; Naiara Akizu; Keith K Vaux; Anide Johansen; Alice A Koh; Hisham Megahed; Alexandra Durr; Alexis Brice; Giovanni Stevanin; Stacy B Gabriel; Trey Ideker; Joseph G Gleeson
Journal:  Science       Date:  2014-01-31       Impact factor: 47.728

Review 4.  Hereditary spastic paraplegia.

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

5.  Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Authors:  Tahir Naeem Khan; Joakim Klar; Muhammad Tariq; Shehla Anjum Baig; Naveed Altaf Malik; Raja Yousaf; Shahid Mahmood Baig; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2014-01-29       Impact factor: 4.246

6.  A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.

Authors:  Jakob Hansen; Kirsten Svenstrup; Debbie Ang; Marit N Nielsen; Jane H Christensen; Niels Gregersen; Jørgen E Nielsen; Costa Georgopoulos; Peter Bross
Journal:  J Neurol       Date:  2007-04-10       Impact factor: 4.849

7.  A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Authors:  Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
Journal:  Hum Genet       Date:  2007-06-28       Impact factor: 4.132

8.  Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Authors:  Christopher M Sanderson; James W Connell; Thomas L Edwards; Nicholas A Bright; Simon Duley; Amanda Thompson; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2005-12-08       Impact factor: 6.150

9.  Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Authors:  Victoria Alvarez; Elena Sánchez-Ferrero; Christian Beetz; Marta Díaz; Belén Alonso; Ana I Corao; Josep Gámez; Jesús Esteban; Juan F Gonzalo; Samuel I Pascual-Pascual; Adolfo López de Munain; Germán Moris; Renne Ribacoba; Celedonio Márquez; Jordi Rosell; Rosario Marín; Maria J García-Barcina; Emilia Del Castillo; Carmen Benito; Eliecer Coto
Journal:  BMC Neurol       Date:  2010-10-08       Impact factor: 2.474

Review 10.  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
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