statistiche ricercatore

Nome	#
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease	146
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B	131
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content	102
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.	94
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression	79
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome	65
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview	64
Morquio B disease: From pathophysiology towards diagnosis	63
Synthesis of a New beta-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis	44
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction	30
Totale	818

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	106	0	0	0	8	15	16	12	14	12	12	13	4
2020/2021	118	7	10	6	10	15	7	4	10	18	16	8	7
2021/2022	52	5	0	0	3	2	8	4	1	5	3	6	15
2022/2023	210	16	35	17	5	15	40	23	18	31	0	4	6
2023/2024	72	2	7	9	3	1	6	7	18	0	8	6	5
2024/2025	162	16	57	31	58	0	0	0	0	0	0	0	0
Totale													818