Literature DB >> 28533353

Child Neurology: LAMA2 muscular dystrophy without contractures.

Marissa Dean1, Salman Rashid2, William Kupsky2, Steven A Moore2, Huiyuan Jiang2.   

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Year:  2017        PMID： 28533353      PMCID： PMC5440243          DOI： 10.1212/WNL.0000000000003958

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

1.  LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.

Authors:  Nicoline Løkken; Alfred Peter Born; Morten Duno; John Vissing
Journal:  Muscle Nerve       Date:  2015-08-13       Impact factor: 3.217

Review 2.  Bridging structure with function: structural, regulatory, and developmental role of laminins.

Authors:  Julia Tzu; M Peter Marinkovich
Journal:  Int J Biochem Cell Biol       Date:  2007-08-06       Impact factor: 5.085

3.  MR imaging findings in children with merosin-deficient congenital muscular dystrophy.

Authors:  P A Caro; M Scavina; E Hoffman; E Pegoraro; H G Marks
Journal:  AJNR Am J Neuroradiol       Date:  1999-02       Impact factor: 3.825

4.  Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.

Authors:  Y He; K J Jones; N Vignier; G Morgan; M Chevallay; A Barois; B Estournet-Mathiaud; H Hori; T Mizuta; F M Tomé; K N North; P Guicheney
Journal:  Neurology       Date:  2001-10-09       Impact factor: 9.910

5.  Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

Authors:  P C Scacheri; E M Gillanders; S H Subramony; V Vedanarayanan; C A Crowe; N Thakore; M Bingler; E P Hoffman
Journal:  Neurology       Date:  2002-02-26       Impact factor: 9.910

Review 6.  Limb-girdle muscular dystrophies--from genetics to molecular pathology.

Authors:  S H Laval; K M D Bushby
Journal:  Neuropathol Appl Neurobiol       Date:  2004-04       Impact factor: 8.090

7.  High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.

Authors:  Maria de los Angeles Beytía; Gabriele Dekomien; Sabine Hoffjan; Verena Haug; Constantin Anastasopoulos; Janbernd Kirschner
Journal:  Mol Cell Probes       Date:  2013-11-10       Impact factor: 2.365

8.  Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

Authors:  Bruno F Gavassini; Nicola Carboni; Jørgen E Nielsen; Else R Danielsen; Carsten Thomsen; Kirsten Svenstrup; Luca Bello; Maria Antonietta Maioli; Giovanni Marrosu; Anna Filomena Ticca; Marco Mura; Maria Giovanna Marrosu; Gianni Soraru; Corrado Angelini; John Vissing; Elena Pegoraro
Journal:  Muscle Nerve       Date:  2011-09-26       Impact factor: 3.217

9.  Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

Authors:  Fatemeh Geranmayeh; Emma Clement; Lucy H Feng; Caroline Sewry; Judith Pagan; Rachael Mein; Stephen Abbs; Louise Brueton; Anne-Marie Childs; Heinz Jungbluth; Christian G De Goede; Bryan Lynch; Jean-Pierre Lin; Gabriel Chow; Carlos de Sousa; Olivia O'Mahony; Anirban Majumdar; Volker Straub; Katherine Bushby; Francesco Muntoni
Journal:  Neuromuscul Disord       Date:  2010-03-06       Impact factor: 4.296
  9 in total
  1 in total

1.  Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report.

Authors:  Mutaz Amin; Yousuf Bakhit; Mahmoud Koko; Mohamed Osama Mirgahni Ibrahim; M A Salih; Muntaser Ibrahim; Osheik A Seidi
Journal:  Acta Myol       Date:  2019-03-01
  1 in total

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