statistiche ricercatore

Nome	#
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion	93
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy	85
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant	66
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency	55
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy	50
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor	38
Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase	37
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population	34
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein	34
Totale	492

	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	35	2	6	5	4	0	3	2	0	13	0	0	0
Totale													492