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

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

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

(2012) Isabella Scionti et al.   JOURNAL OF MEDICAL 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

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

(2011) Ebe Pastorello et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

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

(2010) Costanza Lamperti et al.   MUSCLE & NERVE

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

(2010) Rabi Tawil et al.   NEUROMUSCULAR DISORDERS

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

(2009) ML Mostacciuolo et al.   CLINICAL GENETICS