statistiche ricercatore

Nome	#
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion	99
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy	90
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant	69
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency	58
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy	52
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor	42
Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase	40
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population	38
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein	37
Totale	525

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	23	0	0	0	0	0	0	3	4	4	7	5	0
2020/2021	239	4	0	4	105	27	1	2	10	27	7	16	36
2021/2022	99	1	0	14	1	13	6	0	12	16	2	9	25
2022/2023	96	15	7	1	10	17	14	0	10	9	1	10	2
2023/2024	51	2	6	5	4	0	3	2	0	13	1	10	5
2024/2025	17	1	13	3	0	0	0	0	0	0	0	0	0
Totale													525