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

Regulation of the blood–testis barrier by a local axis in the testis: role of laminin α2 in the basement membrane

(2017) Ying Gao et al.   FASEB JOURNAL

Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges

(2017) Vikas Pejaver et al.   HUMAN MUTATION

Chimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype

(2017) Karen K. McKee et al.   JOURNAL OF CLINICAL INVESTIGATION

Child Neurology: LAMA2 muscular dystrophy without contractures

(2017) Marissa Dean et al.   NEUROLOGY

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

(2017) Elizabeth Harris et al.   NEUROMUSCULAR DISORDERS

Linker proteins restore basement membrane and correct LAMA2 -related muscular dystrophy in mice

(2017) Judith R. Reinhard et al.   Science Translational Medicine

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy

(2017) Min-Wook Kim et al.   Annals of Laboratory Medicine

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy

(2016) Juan Ding et al.   BRAIN & DEVELOPMENT

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

Variation Interpretation Predictors: Principles, Types, Performance, and Choice

(2016) Abhishek Niroula et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

(2015) Aneek Das Bhowmik et al.   INDIAN JOURNAL OF PEDIATRICS

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

(2015) Nicoline Løkken et al.   MUSCLE & NERVE

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

(2014) H. Xiong et al.   CLINICAL GENETICS

Analysing regenerative potential in zebrafish models of congenital muscular dystrophy

(2014) A.J. Wood et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The Extracellular Matrix Protein Laminin  2 Regulates the Maturation and Function of the Blood-Brain Barrier

(2014) M. J. Menezes et al.   JOURNAL OF NEUROSCIENCE

Atypical phenotype in two patients with LAMA2 mutations

(2014) Joana Marques et al.   NEUROMUSCULAR DISORDERS

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy

(2014) Sophelia H.S. Chan et al.   NEUROMUSCULAR DISORDERS

LAMA2mutations in adult-onset muscular dystrophy with leukoencephalopathy

(2013) Sietske H. Kevelam et al.   MUSCLE & NERVE

Determinants of laminin polymerization revealed by the structure of the α5 chain amino-terminal region

(2011) Sadaf-Ahmahni Hussain et al.   EMBO REPORTS

Guidelines for establishing locus specific databases

(2011) Mauno Vihinen et al.   HUMAN MUTATION

Curating gene variant databases (LSDBs): Toward a universal standard

(2011) Jacopo Celli et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

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

(2011) Bruno F. Gavassini et al.   MUSCLE & NERVE

Clinical and pathological heterogeneity in late-onset partial merosin deficiency

(2011) Sanjeev Rajakulendran et al.   MUSCLE & NERVE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

(2010) Fatemeh Geranmayeh et al.   NEUROMUSCULAR DISORDERS

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

(2009) J Oliveira et al.   CLINICAL GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

(2008) Piernanda Vigliano et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY