Literature DB >> 18951794

Ramblings in the history of spinal muscular atrophy.

Victor Dubowitz1.   

Abstract

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Year:  2008        PMID： 18951794     DOI： 10.1016/j.nmd.2008.10.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  16 in total

1.  Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

Authors:  Kristien Peeters; Ivan Litvinenko; Bob Asselbergh; Leonardo Almeida-Souza; Teodora Chamova; Thomas Geuens; Elke Ydens; Magdalena Zimoń; Joy Irobi; Els De Vriendt; Vicky De Winter; Tinne Ooms; Vincent Timmerman; Ivailo Tournev; Albena Jordanova
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

Review 2.  Spinal Muscular Atrophy.

Authors:  Stephen J Kolb; John T Kissel
Journal:  Neurol Clin       Date:  2015-11       Impact factor: 3.806

3.  Spinal muscular atrophy: a timely review.

Authors:  Stephen J Kolb; John T Kissel
Journal:  Arch Neurol       Date:  2011-04-11

4.  Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs.

Authors:  Michiko Yoshida; Shiho Kitaoka; Naohiro Egawa; Mayu Yamane; Ryunosuke Ikeda; Kayoko Tsukita; Naoki Amano; Akira Watanabe; Masafumi Morimoto; Jun Takahashi; Hajime Hosoi; Tatsutoshi Nakahata; Haruhisa Inoue; Megumu K Saito
Journal:  Stem Cell Reports       Date:  2015-03-19       Impact factor: 7.765

Review 5.  Spinal muscular atrophy: from tissue specificity to therapeutic strategies.

Authors:  Daniel M Iascone; Christopher E Henderson; Justin C Lee
Journal:  F1000Prime Rep       Date:  2015-01-05

6.  D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population.

Authors:  Maryam Sedghi; Sadeq Vallian
Journal:  Meta Gene       Date:  2015-11-10

7.  Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA).

Authors:  A LoMauro; A Aliverti; C Mastella; M T Arnoldi; P Banfi; G Baranello
Journal:  PLoS One       Date:  2016-11-07       Impact factor: 3.240

8.  Activin Receptor Type IIB Inhibition Improves Muscle Phenotype and Function in a Mouse Model of Spinal Muscular Atrophy.

Authors:  Min Liu; David W Hammers; Elisabeth R Barton; H Lee Sweeney
Journal:  PLoS One       Date:  2016-11-21       Impact factor: 3.240

Review 9.  Cardiac pathology in spinal muscular atrophy: a systematic review.

Authors:  C A Wijngaarde; A C Blank; M Stam; R I Wadman; L H van den Berg; W L van der Pol
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123

10.  A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children.

Authors:  Antonella LoMauro; Paolo Banfi; Chiara Mastella; Katia Alberti; Giovanni Baranello; Andrea Aliverti
Journal:  Front Neurol       Date:  2018-09-13       Impact factor: 4.003
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