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

Costanza Lamperti, Greta Fabbri, Liliana Vercelli, +24

Muscle & Nerve

Muscle FunctionDiagnosisOrthopaedic SurgeryKinesiologyMuscle Weakness +15

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

Vincenzo Maria Romeo, Elena Pegoraro, C. Ferrati, +11

Journal of Neurology

NeuropsychologyMyotonic DystrophiesHealth SciencesBrain InvolvementNeuroanatomy +11

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

Valerio Pisani, Maria Beatrice Panico, Chiara Terracciano, +6

Muscle & Nerve

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

Annalisa Botta, Fabrizio Rinaldi, Claudio Catalli, +7

Journal of Medical Genetics

Risk Prediction for Clinical Phenotype in Myotonic Dystrophy Type 1: Data from 2,650 Patients

Leila Salehi, E. Bonifazi, Enrico Di Stasio, +8

Genetic Testing

GeneticsGenetic EpidemiologyDiagnosisDisease Gene IdentificationClinical Genetics +15

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)

Annalisa Botta, Sara Caldarola, Laura Vallo, +6

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Znf9 ExpressionMolecular BiologyDegenerative DiseaseCell BiologyRepeat Expansion

Gene Expression Analysis in Myotonic Dystrophy: Indications for a Common Molecular Pathogenic Pathway in DM1 and DM2

Annalisa Botta, Laura Vallo, Fabrizio Rinaldi, +8

Gene Expression

Muscle FunctionPathologyInsulin ReceptorCellular PhysiologyExpanded Transcripts +14

In vitrocorrection of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

Federica Sangiuolo, Emanuela M. Bruscia, Annalucia Serafino, +5

BMC Medical Genetics

Hyper‐CK‐emia as the sole manifestation of myotonic dystrophy type 2

Luciano Merlini, Patrizia Sabatelli, Marta Columbaro, +4

Muscle & Nerve

Endocrine DiseasePathologySole ManifestationMendelian DisorderSkeletal Muscle +15

Italian guidelines for molecular analysis in myotonic dystrophies.

Annalisa Botta, E. Bonifazi, Laura Vallo, +7

PubMed

GeneticsPathologyMolecular BiologyDmpk GeneMolecular Genetics +15