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

Untangling the complexity of limb-girdle muscular dystrophies

(2018) Teerin Liewluck et al.   MUSCLE & NERVE

An update on diagnostic options and considerations in limb-girdle dystrophies

(2018) Corrado Angelini et al.   Expert Review of Neurotherapeutics

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

(2018) I. Nelson et al.   NEUROMUSCULAR DISORDERS

Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I

(2017) Paola Frattini et al.   HUMAN MOLECULAR GENETICS

Calpain-14 and its association with eosinophilic esophagitis

(2017) Vladislav A. Litosh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation

(2017) Maisoon Alhamidi et al.   NEUROMUSCULAR DISORDERS

Dystrophinopathies and Limb-Girdle Muscular Dystrophies

(2017) Anna Sarkozy et al.   NEUROPEDIATRICS

Treadmill Training with HAL Exoskeleton—A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy—Preliminary Study

(2017) Matthias Sczesny-Kaiser et al.   Frontiers in Neuroscience

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

(2017) Melissa L. Cox et al.   Skeletal Muscle

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

(2017) Meng Yu et al.   PLoS One

Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation

(2016) Bo Wu et al.   AMERICAN JOURNAL OF PATHOLOGY

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

(2016) Inna Inashkina et al.   BMC MUSCULOSKELETAL DISORDERS

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

(2016) Hemakumar M Reddy et al.   JOURNAL OF HUMAN GENETICS

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

(2016) Marius Kuhn et al.   JOURNAL OF NEUROLOGY

625. RNAi Therapy for Dominant Limb Girdle Muscular Dystrophy Type 1A

(2016) Lindsay M. Wallace et al.   MOLECULAR THERAPY

Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy

(2016) Soeren Turan et al.   MOLECULAR THERAPY

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A

(2016) Madoka Mori-Yoshimura et al.   MUSCLE & NERVE

Progress and challenges in diagnosis of dysferlinopathy

(2016) Marina Fanin et al.   MUSCLE & NERVE

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

(2016) Francesca Magri et al.   MUSCLE & NERVE

Limb-girdle muscular dystrophies — international collaborations for translational research

(2016) Rachel Thompson et al.   Nature Reviews Neurology

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

(2016) Guja Astrea et al.   NEUROMUSCULAR DISORDERS

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

(2016) Sarah Pambianco et al.   Cell Reports

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

(2015) Csilla H. Lazar et al.   HUMAN MUTATION

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

(2015) Wen Zheng et al.   MOLECULAR NEUROBIOLOGY

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

(2015) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

(2015) E. Gutiérrez-Rivas et al.   NEUROMUSCULAR DISORDERS

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

(2015) Saida Ortolano   Orphanet Journal of Rare Diseases

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

(2014) Natássia M. Vieira et al.   HUMAN MOLECULAR GENETICS

Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review)

(2014) OMAR A. MAHMOOD et al.   Molecular Medicine Reports

The Limb-Girdle Muscular Dystrophies

(2014) Matthew P. Wicklund et al.   NEUROLOGIC CLINICS

Diagnostic approach to the congenital muscular dystrophies

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

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

(2013) Nina Bögershausen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies

(2013) Nilgun Cetin et al.   JOURNAL OF MEDICAL GENETICS

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

(2013) Enrico Peterle et al.   JOURNAL OF NEUROLOGY

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

(2013) Annalaura Torella et al.   PLoS One

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

(2012) Tony Roscioli et al.   NATURE GENETICS

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

(2011) Steven A. Greenberg et al.   ANNALS OF NEUROLOGY

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

(2011) Yuji Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

(2010) Hulya Gundesli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Limb girdle muscular dystrophy type 2A in India: A study based on semi-quantitative protein analysis, with clinical and histopathological correlation

(2010) MeharC Sharma et al.   NEUROLOGY INDIA

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

(2010) Uluc Yis et al.   NEUROMUSCULAR DISORDERS

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

(2010) Eva Stensland et al.   NEUROMUSCULAR DISORDERS

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

(2009) E. Mercuri et al.   NEUROLOGY

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

(2009) Rebecca L. Puckett et al.   NEUROMUSCULAR DISORDERS

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

(2008) Emma M. Clement et al.   ARCHIVES OF NEUROLOGY

Limb–girdle muscular dystrophies

(2008) Michela Guglieri et al.   CURRENT OPINION IN NEUROLOGY

Myofibrillar myopathies

(2008) Duygu Selcen   CURRENT OPINION IN NEUROLOGY

Revised spectrum of mutations in sarcoglycanopathies

(2008) Madiha Trabelsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

(2008) Jacques S. Beckmann et al.   NEUROMUSCULAR DISORDERS

Cardiac assessment of limb–girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study

(2008) Karim Wahbi et al.   NEUROMUSCULAR DISORDERS

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

(2007) Michela Guglieri et al.   HUMAN MUTATION

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

(2007) Harriet P. Lo et al.   NEUROMUSCULAR DISORDERS