statistiche ricercatore

Nome	#
CHARACTERIZATION OF CELLULAR AND MOLECULAR MECHANISMS IN CELLULAR MODELS OF NEURONAL CEROID LIPOFUSCINOSES DISEASES	84
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.	66
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.	66
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.	52
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.	48
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis	48
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.	47
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.	47
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.	44
TRPV4 mutations in children with congenital distal spinal muscular atrophy.	44
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.	43
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome	42
Totale	631

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	42	0	0	0	0	0	4	1	0	2	4	7	24
2020/2021	58	3	18	2	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	69	9	11	7	36	5	1	0	0	0	0	0	0
Totale													631

CATALOGO DEI PRODOTTI DELLA RICERCA