IRIS
GOTTA, FABIO
 Distribuzione geografica
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Continente #
EU - Europa 1.768
AS - Asia 8
Totale 1.776
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Nazione #
IT - Italia 1.768
CN - Cina 8
Totale 1.776
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Città #
Genoa 992
Genova 474
Vado Ligure 164
Rapallo 126
Bordighera 12
Beijing 2
Totale 1.770
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Nome #
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 179
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 159
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 154
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 141
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 133
Quiz page february 2015: renal colic in an adolescent. 126
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 119
Limbic Network Derangement Mediates Unawareness of Apathy in Mild Cognitive Impairment due to Alzheimer’s Disease: Clues from [18F]FDG PET Voxel-Wise Analysis 98
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 86
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 74
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 74
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 72
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 64
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 64
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 64
How can we define a brain health chart? A narrative review and a proposal 61
Clinical and metabolic profiles in behavioural frontotemporal dementia: Impact of age at onset 54
Case report: Episodic ataxia without ataxia? 51
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 36
Case report: A single novel calpain 3 gene variant associated with mild myopathy 10
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect 7
Totale 1.826
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Categoria #
all - tutte 6.299
article - articoli 6.299
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 12.598
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202165 0 0 0 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
2024/2025609 16 24 9 49 41 56 60 132 54 34 68 66
2025/2026406 166 66 100 74 0 0 0 0 0 0 0 0
Totale 1.826