statistiche ricercatore

Nome	#
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report	45
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically	29
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy	27
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function	23
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature	17
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience	14
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia	11
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype	9
Totale	175

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2022/2023	50	0	0	0	0	4	0	16	0	19	1	2	8
2023/2024	59	5	7	5	3	15	6	2	1	1	0	9	5
2024/2025	66	0	3	1	3	38	21	0	0	0	0	0	0
Totale													175