The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

GAA Variants and Phenotypes Among 1079 Patients with Pompe Disease: Data from the Pompe Registry

(2019) Arnold J.J. Reuser et al.   HUMAN MUTATION

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

(2018) Paulo José Lorenzoni et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

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

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

(2018) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

(2018) Katherine Johnson et al.   Skeletal Muscle

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

(2018) Babi Ramesh Reddy Nallamilli et al.   Annals of Clinical and Translational Neurology

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

(2017) Katherine Johnson et al.   Orphanet Journal of Rare Diseases

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

(2017) David F. Kronn et al.   PEDIATRICS

Newborn Screening for Pompe Disease

(2017) Olaf A. Bodamer et al.   PEDIATRICS

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

(2017) Meng Yu et al.   PLoS One

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

(2016) K. Stehlíková et al.   CLINICAL GENETICS

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

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

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders

(2016) Atsuko Nishikawa et al.   JOURNAL OF MEDICAL GENETICS

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

(2016) Benedikt Schoser et al.   JOURNAL OF NEUROLOGY

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

Next generation sequencing detection of late onset pompe disease

(2016) Corrado Angelini et al.   MUSCLE & NERVE

The genetic basis of undiagnosed muscular dystrophies and myopathies

(2016) Marco Savarese et al.   NEUROLOGY

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

(2016) Zoltan Lukacs et al.   NEUROLOGY

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

(2016) Anni Evilä et al.   NEUROMUSCULAR DISORDERS

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

(2016) C. I. van Capelle et al.   Orphanet Journal of Rare Diseases

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

(2016) Sébastien Lévesque et al.   Orphanet Journal of Rare Diseases

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience

(2015) M.-W. Seong et al.   CLINICAL GENETICS

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

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

(2015) Patrick V. Hopkins et al.   JOURNAL OF PEDIATRICS

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

(2015) H. Topaloglu et al.   NEUROLOGY

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing

(2015) Yi Dai 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

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

Dismantling Limb-Girdle Muscular Dystrophy

(2015) Pushpa Narayanaswami   JAMA Neurology

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

(2015) Roula Ghaoui et al.   JAMA Neurology

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

(2014) Arunkanth Ankala et al.   ANNALS OF NEUROLOGY

Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan

(2014) Hsuan-Chieh Liao et al.   CLINICA CHIMICA ACTA

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

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

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

Screening for late-onset Pompe disease in Finland

(2014) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

(2014) Marco Savarese et al.   Acta Neuropathologica Communications

How to describe the clinical spectrum in Pompe disease?

(2013) Deniz Güngör et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

(2013) Ephrem LH Chin et al.   BMC GENETICS

World Medical Association Declaration of Helsinki

(2013)   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

(2013) Melanie A. Jones et al.   MOLECULAR GENETICS AND METABOLISM

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

(2013) Nicolai Preisler et al.   MOLECULAR GENETICS AND METABOLISM

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Phenotypical variation within 22 families with Pompe disease

(2013) Stephan C A Wens et al.   Orphanet Journal of Rare Diseases

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

(2013) C. Alexander Valencia et al.   PLoS One

Genetics of neuromuscular disorders

(2012) Nigel G. Laing   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

(2012) C. Alexander Valencia et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

(2012) Thomas P Mechtler et al.   LANCET

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

Update on the Genetics of Limb Girdle Muscular Dystrophy

(2012) Satomi Mitsuhashi et al.   Seminars in Pediatric Neurology

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies

(2010) Carolina Tesi Rocha et al.   Current Neurology and Neuroscience Reports

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

(2010) C.I. van Capelle et al.   NEUROMUSCULAR DISORDERS

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

(2008) C.I. van Capelle et al.   NEUROMUSCULAR DISORDERS