IRIS
GEMELLI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 1.887
Totale 1.887
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Nazione #
IT - Italia 1.887
Totale 1.887
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Città #
Genova 917
Genoa 429
Rapallo 298
Vado Ligure 232
Bordighera 11
Totale 1.887
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Nome #
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 126
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 121
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 120
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 118
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 115
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 103
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 95
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 92
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 80
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 72
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 72
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 65
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 63
Novel TRIM32 mutation in sarcotubular myopathy 56
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 54
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 49
ATYPICAL STIFF PERSON SYNDROME WITH ANTI-IGLON5 ANTIBODIES: A CASE REPORT 43
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 43
Genetic approach to neuromuscular disorders in the NGS era 43
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 42
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy 36
null 35
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy 33
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 28
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 27
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question! 27
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 24
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 22
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis 21
THE BEHAVIOR OF FAST A. FIBERS IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A AND HEREDITARY TRANSTHYRETIN AMYLOIDOSIS 20
MND Phenotypes Differentiation: The Role of Multimodal Characterization at the Time of Diagnosis 19
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 18
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus 15
Case report: Episodic ataxia without ataxia? 13
RFC1 expansions are a common cause of idiopathic sensory neuropathy 13
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 11
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 10
EARLY NOCICEPTIVE EVOKED POTENTIALS (NEPS) IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND CHARCOTMARIE-TOOTH DISEASE TYPE 1A 9
TESTING OVERWORK WEAKNESS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE: IS IT TRUE OR FALSE? 9
Comparing the Impact of COVID-19 on Vaccinated and Unvaccinated Patients Affected by Myasthenia Gravis 9
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 7
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 6
Totale 1.984
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Categoria #
all - tutte 9.457
article - articoli 9.225
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 18.682
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020334 0 0 0 0 31 48 57 35 52 61 40 10
2020/2021158 13 10 4 30 10 6 5 18 10 21 11 20
2021/2022250 9 8 9 19 15 16 10 51 19 30 17 47
2022/2023347 27 42 7 36 46 53 1 25 58 2 42 8
2023/2024391 14 24 17 65 18 63 36 28 25 17 26 58
2024/2025268 48 60 22 75 63 0 0 0 0 0 0 0
Totale 1.984