Literature DB >> 14985388

A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.

R I Takata, C E Speck Martins, M R Passosbueno, K T Abe, A L Nishimura, M Dorvalina Da Silva, A Monteiro, M I Lima, F Kok, M Zatz.   

Abstract

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Year:  2004        PMID： 14985388      PMCID： PMC1735691          DOI： 10.1136/jmg.2003.013201

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


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  13 in total

1.  [Motor neuron diseases].

Authors:  S Petri; T Meyer
Journal:  Nervenarzt       Date:  2011-06       Impact factor: 1.214

2.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Authors:  Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana M Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; Michael E Shy; James Y Garbern
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

Review 3.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

Review 4.  Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Authors:  Stephanie Zlatic; Heather Skye Comstra; Avanti Gokhale; Michael J Petris; Victor Faundez
Journal:  Neurobiol Dis       Date:  2015-01-10       Impact factor: 5.996

5.  Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

Authors:  Ling Yi; Anthony Donsante; Marina L Kennerson; Julian F B Mercer; James Y Garbern; Stephen G Kaler
Journal:  Hum Mol Genet       Date:  2011-12-30       Impact factor: 6.150

Review 6.  Unraveling the genetics of distal hereditary motor neuronopathies.

Authors:  Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 7.  The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Authors:  Michelle A Farrar; Matthew C Kiernan
Journal:  Neurotherapeutics       Date:  2015-04       Impact factor: 7.620

8.  A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Authors:  Agnes L Nishimura; Miguel Mitne-Neto; Helga C A Silva; Antônio Richieri-Costa; Susan Middleton; Duilio Cascio; Fernando Kok; João R M Oliveira; Tom Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz
Journal:  Am J Hum Genet       Date:  2004-09-15       Impact factor: 11.025

Review 9.  Pes cavus and hereditary neuropathies: when a relationship should be suspected.

Authors:  S Piazza; G Ricci; E Caldarazzo Ienco; C Carlesi; L Volpi; G Siciliano; M Mancuso
Journal:  J Orthop Traumatol       Date:  2010-10-21

10.  Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis.

Authors:  Jonathon Telianidis; Ya Hui Hung; Stephanie Materia; Sharon La Fontaine
Journal:  Front Aging Neurosci       Date:  2013-08-23       Impact factor: 5.750
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