statistiche ricercatore

Nome	#
CHARACTERIZATION OF CELLULAR AND MOLECULAR MECHANISMS IN CELLULAR MODELS OF NEURONAL CEROID LIPOFUSCINOSES DISEASES	112
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.	91
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.	80
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.	76
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis	74
TRPV4 mutations in children with congenital distal spinal muscular atrophy.	64
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.	63
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.	63
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.	63
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.	62
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.	62
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome	59
Totale	869

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2020/2021	35	0	0	0	5	14	4	0	0	5	0	5	2
2021/2022	42	2	8	0	0	0	0	1	9	1	1	5	15
2022/2023	112	12	2	18	14	9	28	1	3	13	1	10	1
2023/2024	91	5	6	4	20	11	3	0	10	3	12	13	4
2024/2025	174	9	11	7	36	5	1	21	1	22	17	10	34
2025/2026	133	40	25	36	32	0	0	0	0	0	0	0	0
Totale													869

CATALOGO DEI PRODOTTI DELLA RICERCA