Literature DB >> 34130888

Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands.

Hubert J M Smeets1, Bram Verbrugge2, Pierre Springuel3, Nicol C Voermans4.   

Abstract

Entities:  

Keywords:  Clinical spectrum; MDC1A/LAMA2 disease; Natural history; Therapeutic strategies

Year:  2021        PMID： 34130888      PMCID： PMC8994498          DOI： 10.1016/j.nmd.2021.04.003

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


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  24 in total

1.  Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.

Authors:  Dwi U Kemaladewi; Eleonora Maino; Elzbieta Hyatt; Huayun Hou; Maylynn Ding; Kara M Place; Xinyi Zhu; Prabhpreet Bassi; Zahra Baghestani; Amit G Deshwar; Daniele Merico; Hui Y Xiong; Brendan J Frey; Michael D Wilson; Evgueni A Ivakine; Ronald D Cohn
Journal:  Nat Med       Date:  2017-07-17       Impact factor: 53.440

2.  227th ENMC International Workshop:: Finalizing a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands, 10-11 February 2017.

Authors:  Raffaella Willmann; Filippo Buccella; Annamaria De Luca; Miranda D Grounds
Journal:  Neuromuscul Disord       Date:  2017-11-15       Impact factor: 4.296

3.  A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.

Authors:  Dwi U Kemaladewi; Prabhpreet S Bassi; Steven Erwood; Dhekra Al-Basha; Kinga I Gawlik; Kyle Lindsay; Elzbieta Hyatt; Rebekah Kember; Kara M Place; Ryan M Marks; Madeleine Durbeej; Steven A Prescott; Evgueni A Ivakine; Ronald D Cohn
Journal:  Nature       Date:  2019-07-24       Impact factor: 49.962

Review 4.  LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Authors:  Jorge Oliveira; Angela Gruber; Márcio Cardoso; Ricardo Taipa; Isabel Fineza; Ana Gonçalves; Andreas Laner; Thomas L Winder; Jocelyn Schroeder; Julie Rath; Márcia E Oliveira; Emília Vieira; Ana Paula Sousa; José Pedro Vieira; Teresa Lourenço; Luciano Almendra; Luís Negrão; Manuela Santos; Manuel Melo-Pires; Teresa Coelho; Johan T den Dunnen; Rosário Santos; Mário Sousa
Journal:  Hum Mutat       Date:  2018-08-10       Impact factor: 4.878

5.  An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

Authors:  J Moll; P Barzaghi; S Lin; G Bezakova; H Lochmüller; E Engvall; U Müller; M A Ruegg
Journal:  Nature       Date:  2001-09-20       Impact factor: 49.962

6.  Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency.

Authors:  Michael Erb; Sarina Meinen; Patrizia Barzaghi; Lazar T Sumanovski; Isabelle Courdier-Früh; Markus A Rüegg; Thomas Meier
Journal:  J Pharmacol Exp Ther       Date:  2009-09-16       Impact factor: 4.030

Review 7.  Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes.

Authors:  Peter D Yurchenco; Karen K McKee
Journal:  Front Mol Neurosci       Date:  2019-12-13       Impact factor: 5.639

8.  Randomized trial of lung hyperinflation therapy in children with congenital muscular dystrophy.

Authors:  Hemant Sawnani; Oscar H Mayer; Avani C Modi; John E Pascoe; Keith McConnell; Joseph M McDonough; Anne M Rutkowski; Md Monir Hossain; Rhonda Szczesniak; Dawit G Tadesse; Christine L Schuler; Raouf Amin
Journal:  Pediatr Pulmonol       Date:  2020-07-20

9.  Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy.

Authors:  Qing Yu; Arpana Sali; Jack Van der Meulen; Brittany K Creeden; Heather Gordish-Dressman; Anne Rutkowski; Sree Rayavarapu; Kitipong Uaesoontrachoon; Tony Huynh; Kanneboyina Nagaraju; Christopher F Spurney
Journal:  PLoS One       Date:  2013-06-06       Impact factor: 3.240

10.  LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.

Authors:  Alberto A Zambon; Deborah Ridout; Marion Main; Rachael Mein; Rahul Phadke; Francesco Muntoni; Anna Sarkozy
Journal:  Ann Clin Transl Neurol       Date:  2020-09-10       Impact factor: 4.511
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