TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation

A Journey with LGMD: From Protein Abnormalities to Patient Impact

(2021) Dimitra G. Georganopoulou et al.   PROTEIN JOURNAL

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

(2021) Lisa Gianesello et al.   Genes

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

(2020) Jorge Alonso-Pérez et al.   BRAIN

Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy

(2019) Pablo B. Winckler et al.   CLINICAL GENETICS

Extending the clinical and mutational spectrum ofTRIM32-related myopathies in a non-Hutterite population

(2018) Katherine Johnson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review

(2018) Eskandar Taghizadeh et al.   JOURNAL OF CELLULAR PHYSIOLOGY

TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours

(2016) Elisa Lazzari et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

(2014) Juliette Nectoux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TRIM32 Regulates Skeletal Muscle Stem Cell Differentiation and Is Necessary for Normal Adult Muscle Regeneration

(2012) Sarah Nicklas et al.   PLoS One

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data

(2011) Valentina Boeva et al.   BIOINFORMATICS

Astn2, A Novel Member of the Astrotactin Gene Family, Regulates the Trafficking of ASTN1 during Glial-Guided Neuronal Migration

(2010) P. M. Wilson et al.   JOURNAL OF NEUROSCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

TRIM32 is an E3 ubiquitin ligase for dysbindin

(2009) Matthew Locke et al.   HUMAN MOLECULAR GENETICS

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H

(2007) Valentina Saccone et al.   HUMAN MUTATION