IRIS
GOTTA, FABIO
 Distribuzione geografica
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Continente #
EU - Europa 847
Totale 847
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Nazione #
IT - Italia 847
Totale 847
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Città #
Genova 474
Genoa 179
Rapallo 126
Vado Ligure 56
Bordighera 12
Totale 847
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Nome #
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 135
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 120
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 117
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 111
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 102
Quiz page february 2015: renal colic in an adolescent. 99
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 59
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 47
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 26
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 20
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 16
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 14
Case report: Episodic ataxia without ataxia? 11
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 4
Limbic Network Derangement Mediates Unawareness of Apathy in Mild Cognitive Impairment due to Alzheimer’s Disease: Clues from [18F]FDG PET Voxel-Wise Analysis 2
Totale 883
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Categoria #
all - tutte 3.169
article - articoli 3.169
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 6.338
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020194 0 0 0 9 23 26 34 19 27 33 21 2
2020/202189 11 4 9 11 1 6 8 7 5 12 7 8
2021/202291 0 2 6 7 5 5 2 23 6 11 11 13
2022/2023144 7 14 2 14 27 22 0 13 18 0 22 5
2023/2024168 8 2 3 33 6 32 8 17 11 12 9 27
2024/202572 16 24 9 23 0 0 0 0 0 0 0 0
Totale 883