Literature DB >> 18463901

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Rafaella M P Nascimento, Clarissa Bueno, Marcília Martyn, Emília K E A Leão, Mayana Zatz.   

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Year:  2008        PMID： 18463901     DOI： 10.1007/s10048-008-0130-8

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


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  6 in total

1.  Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.

Authors:  A Tamagaki; M Shima; R Tomita; M Okumura; M Shibata; S Morichika; H Kurahashi; J C Giddings; A Yoshioka; Y Yokobayashi
Journal:  Am J Med Genet       Date:  2000-09-04

2.  The rumpshaker mutation in spastic paraplegia.

Authors:  H Kobayashi; E P Hoffman; H G Marks
Journal:  Nat Genet       Date:  1994-07       Impact factor: 38.330

3.  X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

Authors:  M Zatz; C Penha-Serrano; P A Otto
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

Review 4.  Apoptosis-inducing factor: a matter of neuron life and death.

Authors:  Slavica Krantic; Naguib Mechawar; Stéphanie Reix; Rémi Quirion
Journal:  Prog Neurobiol       Date:  2007-01-05       Impact factor: 11.685

Review 5.  The hereditary spastic paraplegias: nine genes and counting.

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

6.  Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

Authors:  A Starling; P Rocco; F Cambi; G M Hobson; M R Passos Bueno; M Zatz
Journal:  Am J Med Genet       Date:  2002-08-01
  6 in total
  5 in total

Review 1.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

2.  Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Authors:  Mark Braschinsky; Riin Tamm; Christian Beetz; Elena Sachez-Ferrero; Elve Raukas; Siiri-Merike Lüüs; Katrin Gross-Paju; Catherine Boillot; Federico Canzian; Andres Metspalu; Sulev Haldre
Journal:  BMC Neurol       Date:  2010-03-09       Impact factor: 2.474

Review 3.  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

Review 4.  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

Review 5.  Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.

Authors:  Liena E O Elsayed; Isra Zuhair Eltazi; Ammar E Ahmed; Giovanni Stevanin
Journal:  Front Mol Biosci       Date:  2021-11-26
  5 in total

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