statistiche ricercatore

Nome	#
RFC1 expansions are a common cause of idiopathic sensory neuropathy	63
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study	44
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic	43
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome	33
Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification	33
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry	25
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis	23
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis	19
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions	15
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene	14
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts	13
Genotype-phenotype correlation and functional mechanisms of RFC1 repeat expansion causing CANVAS and sensory neuropathy	5
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis	2
Totale	332

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2020/2021	2	0	0	0	1	1	0	0	0	0	0	0	0
2021/2022	14	1	0	0	0	0	0	0	0	1	0	5	7
2022/2023	63	3	4	1	3	1	4	8	1	37	0	1	0
2023/2024	70	3	10	4	6	4	9	4	8	0	5	6	11
2024/2025	183	9	10	1	13	11	22	12	25	64	16	0	0
Totale													332