Literature DB >> 12471215

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.

A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, M Zatz.   

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Year:  2002        PMID： 12471215      PMCID： PMC1757223          DOI： 10.1136/jmg.39.12.e77

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient.

Authors:  Giuliana Castello Coatti; Miriam Frangini; Marcos C Valadares; Juliana Plat Gomes; Natalia O Lima; Natale Cavaçana; Amanda F Assoni; Mayra V Pelatti; Alexander Birbrair; Antonio Carlos Pedroso de Lima; Julio M Singer; Francisco Marcelo M Rocha; Giovani Loiola Da Silva; Mario Sergio Mantovani; Lucia Inês Macedo-Souza; Merari F R Ferrari; Mayana Zatz
Journal:  Stem Cell Rev Rep       Date:  2017-10       Impact factor: 5.739

2.  Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.

Authors:  Liang Qiang; Emanuela Piermarini; Hemalatha Muralidharan; Wenqian Yu; Lanfranco Leo; Laura E Hennessy; Silvia Fernandes; Theresa Connors; Philip L Yates; Michelle Swift; Lyandysha V Zholudeva; Michael A Lane; Gerardo Morfini; Guillermo M Alexander; Terry D Heiman-Patterson; Peter W Baas
Journal:  Hum Mol Genet       Date:  2019-04-01       Impact factor: 6.150

3.  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

4.  Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function.

Authors:  Nina Tang Sherwood; Qi Sun; Mingshan Xue; Bing Zhang; Kai Zinn
Journal:  PLoS Biol       Date:  2004-11-30       Impact factor: 8.029

Review 5.  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

6.  Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Authors:  Mayana Zatz; Maria Rita Passos-Bueno; Mariz Vainzof
Journal:  Genet Mol Biol       Date:  2016 Jul-Sep       Impact factor: 1.771

Review 7.  Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.

Authors:  Àngels García-Cazorla; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2018-07-16       Impact factor: 4.982
  7 in total

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