Related references
Note: Only part of the references are listed.Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
Hannes Erdmann et al.
BRAIN (2023)
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Sai Zhang et al.
NEURON (2022)
Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning
Mauro Monforte et al.
JOURNAL OF NEUROLOGY (2022)
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
Yosuke Hiramuki et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2022)
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors
Carlo Fabrizio et al.
JOURNAL OF PERSONALIZED MEDICINE (2022)
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD
Valerio Caputo et al.
CELLS (2022)
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings
Fangzhi Frank Jia et al.
NEUROMUSCULAR DISORDERS (2021)
Deep learning segmentation of transverse musculoskeletal ultrasound images for neuromuscular disease assessment
Francesco Marzola et al.
COMPUTERS IN BIOLOGY AND MEDICINE (2021)
Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects
Taylor Gould et al.
DIAGNOSTICS (2021)
Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders
Stefania Zampatti et al.
JOURNAL OF PERSONALIZED MEDICINE (2021)
Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
Anna Greco et al.
CLINICAL GENETICS (2020)
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Ana Nikolic et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
Kohei Hamanaka et al.
NEUROLOGY (2020)
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
G. Giacomucci et al.
EUROPEAN JOURNAL OF NEUROLOGY (2020)
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Giulia Ricci et al.
SCIENTIFIC REPORTS (2020)
Artificial Intelligence in Medicine: Today and Tomorrow
Giovanni Briganti et al.
FRONTIERS IN MEDICINE (2020)
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
Stefania Zampatti et al.
NEUROGENETICS (2019)
The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy
Charis L. Himeda et al.
Annual Review of Genomics and Human Genetics (2019)
FSHD1 and FSHD2 form a disease continuum
Sabrina Sacconi et al.
NEUROLOGY (2019)
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations
Claudia Strafella et al.
HUMAN MOLECULAR GENETICS (2019)
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stephane Roche et al.
NEUROLOGY-GENETICS (2019)
Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
David R. Adams et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
Raffaella Cascella et al.
FRONTIERS IN NEUROLOGY (2018)
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
Marlinde L. van den Boogaard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Magnetic Resonance Imaging in a Large Cohort of Facioscapulohumeral Muscular Dystrophy Patients: Pattern Refinement and Implications for Clinical Trials
Giorgio Tasca et al.
ANNALS OF NEUROLOGY (2016)
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Patrizia Calandra et al.
JOURNAL OF MEDICAL GENETICS (2016)
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy
Takako I. Jones et al.
CLINICAL EPIGENETICS (2015)
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Mirjam Larsen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Richard J. L. F. Lemmers et al.
HUMAN MOLECULAR GENETICS (2015)
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
Marie-Cecile Gaillard et al.
NEUROLOGY (2014)
DNA Methylation Analysis of the Macrosatellite Repeat Associated with FSHD Muscular Dystrophy at Single Nucleotide Level
Claudia Huichalaf et al.
PLOS ONE (2014)
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
Takako I. Jones et al.
CLINICAL EPIGENETICS (2014)
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Sabrina Sacconi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
A focal domain of extreme demethylation within D4Z4 in FSHD2
Lynn M. Hartweck et al.
NEUROLOGY (2013)
Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
Isabella Scionti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
Sabrina Sacconi et al.
JOURNAL OF MEDICAL GENETICS (2012)
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
PGM van Overveld et al.
NATURE GENETICS (2003)