Literature DB >> 28108522

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.

Renske I Wadman1, Marloes Stam1, Marleen Gijzen2, Henny H Lemmink3, Irina N Snoeck4, Camiel A Wijngaarde1, Kees P J Braun5, Marja A G C Schoenmakers6, Leonard H van den Berg1, Dennis Dooijes2, W-Ludo van der Pol1.   

Abstract

Entities:  

Keywords:  MOTOR NEURON DISEASE; SPINAL MUSCULAR ATRO

Mesh：

Substances：

Year:  2017        PMID： 28108522     DOI： 10.1136/jnnp-2016-314292

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  33 in total

Review 1.  Genetic approaches to the treatment of inherited neuromuscular diseases.

Authors:  Bhavya Ravi; Anthony Antonellis; Charlotte J Sumner; Andrew P Lieberman
Journal:  Hum Mol Genet       Date:  2019-10-01       Impact factor: 6.150

2.  Drug treatment for spinal muscular atrophy types II and III.

Authors:  Renske I Wadman; W Ludo van der Pol; Wendy Mj Bosboom; Fay-Lynn Asselman; Leonard H van den Berg; Susan T Iannaccone; Alexander Fje Vrancken
Journal:  Cochrane Database Syst Rev       Date:  2020-01-06

Review 3.  Advances in therapy for spinal muscular atrophy: promises and challenges.

Authors:  Ewout J N Groen; Kevin Talbot; Thomas H Gillingwater
Journal:  Nat Rev Neurol       Date:  2018-02-09       Impact factor: 42.937

4.  Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA).

Authors:  Mary Curry; Rosángel Cruz; Lisa Belter; Mary Schroth; Megan Lenz; Jill Jarecki
Journal:  BMC Pediatr       Date:  2021-05-17       Impact factor: 2.125

Review 5.  Physical exercise training for type 3 spinal muscular atrophy.

Authors:  Bart Bartels; Jacqueline Montes; W Ludo van der Pol; Janke F de Groot
Journal:  Cochrane Database Syst Rev       Date:  2019-03-01

Review 6.  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

7.  Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.

Authors:  Felicity K Boardman; Chloe Sadler; Philip J Young
Journal:  Mol Genet Genomic Med       Date:  2017-11-23       Impact factor: 2.183

8.  Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial).

Authors:  Marloes Stam; Renske I Wadman; Camiel A Wijngaarde; Bart Bartels; Fay-Lynn Asselman; Louise A M Otto; H Stephan Goedee; Laura E Habets; Janke F de Groot; Marja A G C Schoenmakers; Inge Cuppen; Leonard H van den Berg; W Ludo van der Pol
Journal:  BMJ Open       Date:  2018-07-30       Impact factor: 2.692

9.  Drug treatment for spinal muscular atrophy type I.

Authors:  Renske I Wadman; W Ludo van der Pol; Wendy Mj Bosboom; Fay-Lynn Asselman; Leonard H van den Berg; Susan T Iannaccone; Alexander Fje Vrancken
Journal:  Cochrane Database Syst Rev       Date:  2019-12-11

Review 10.  Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy.

Authors:  Hannah K Shorrock; Thomas H Gillingwater; Ewout J N Groen
Journal:  Drugs       Date:  2018-03       Impact factor: 9.546
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