A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

(2016) Ana Nikolic et al.   BMJ Open

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

(2015) Partha S. Ghosh et al.   MUSCLE & NERVE

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

(2015) Rabi Tawil et al.   NEUROLOGY

Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

(2015) Jeffrey M. Statland et al.   NEUROLOGY

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

(2015) Emmanuelle Salort-Campana et al.   Orphanet Journal of Rare Diseases

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears

(2014) G. Ricci et al.   CURRENT MOLECULAR MEDICINE

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

(2014) Richard J.L.F. Lemmers et al.   HUMAN MOLECULAR GENETICS

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

(2013) Olivia Schreiber et al.   BMC Medical Genetics

Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

(2013) Giulia Ricci et al.   BRAIN

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study

(2013) M. Masciullo et al.   NEUROMUSCULAR DISORDERS

Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

(2012) Isabella Scionti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

(2012) P. Sakellariou et al.   NEUROMUSCULAR DISORDERS

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes

(2012) Giulia Ricci et al.   NEUROMUSCULAR DISORDERS

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

(2010) Costanza Lamperti et al.   MUSCLE & NERVE

Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy

(2009) Joerg-Patrick Stübgen et al.   MUSCLE & NERVE