A case of dropped head syndrome and exercise intolerance in a 5 year old boy due to a pathogenic variant in the CACNA1S gene

/0 Commenti/in , , , /da
Continua a leggere

Psoriasis and Myotonic Dystrophy type 1: another cutaneous manifestation of a multisystemic disorder

/0 Commenti/in , , , /da
Continua a leggere

THE METMYD STUDY: baseline data and early results on efficacy and safety of metformin in myotonic dystrophy type 1

/0 Commenti/in , , , /da
Continua a leggere

Transition in Glycogen Storage Disease type 2 (GSD2): state of art in Italian Centers

/0 Commenti/in , , , /da
Continua a leggere

SGLT2 inhibitors improve skeletal muscle impairment in an animal model of heart failure by modulating glucose and ion homeostasis

/0 Commenti/in , , , /da
Continua a leggere

A case of Spinal Muscular Atrophy with genetic susceptibility for thrombotic microangiopathies

/0 Commenti/in , , , /da
Continua a leggere

Axial involvement in Facioscapulohumeral dystrophy (FSHD): imaging and clinical features.

/0 Commenti/in , , , /da
Continua a leggere