statistiche ricercatore

Nome	#
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders	208
Identification and characterization of nuclear genes responsible for human mitochondrial disorders: fastkd2, responsible for a neurological disease associated with cox defiency and sdhaf1, encoding a complex II assembly, mutated in SDH-defective leukoencephalopaty	146
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?	146
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance	132
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease	129
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature	128
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults	124
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis	123
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies	122
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance	121
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations	116
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations	112
Totale	1.607

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	213	0	0	0	0	28	24	39	34	46	17	16	9
2020/2021	228	6	12	35	29	36	24	11	18	12	24	11	10
2021/2022	124	14	14	20	6	2	11	9	9	3	8	13	15
2022/2023	363	27	129	14	47	19	43	0	31	34	3	10	6
2023/2024	189	3	7	1	24	13	46	52	6	11	1	2	23
2024/2025	145	14	47	26	14	44	0	0	0	0	0	0	0
Totale													1.607

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