statistiche ricercatore

Continente	#
EU - Europa	1.060
Totale	1.060

Nazione	#
IT - Italia	1.060
Totale	1.060

Nome	#
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy	132
Clinical and molecular consequences of exon 78 deletion in DMD gene	131
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.	131
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures	119
STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy	109
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features	106
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy	101
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation	88
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia	42
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment	41
null	35
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY	27
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature	22
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213	18
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia	10
Totale	1.112

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	204	0	0	0	0	15	22	32	42	23	36	27	7
2020/2021	107	4	9	4	7	1	14	10	11	5	24	5	13
2021/2022	134	17	1	4	9	6	11	8	30	15	16	3	14
2022/2023	186	12	12	4	25	22	31	0	15	29	3	31	2
2023/2024	150	7	10	9	19	6	39	9	7	7	6	11	20
2024/2025	131	14	17	14	43	43	0	0	0	0	0	0	0
Totale													1.112