IRIS
GEMELLI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 3.247
AS - Asia 9
Totale 3.256
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Nazione #
IT - Italia 3.247
CN - Cina 6
SG - Singapore 3
Totale 3.256
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Città #
Genoa 1.659
Genova 917
Vado Ligure 362
Rapallo 298
Bordighera 11
Singapore 3
Beijing 2
Totale 3.252
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Nome #
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 163
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 159
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 150
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 141
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 136
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 133
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 129
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 124
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 119
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 119
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 106
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 100
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 93
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 89
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 89
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 86
ATYPICAL STIFF PERSON SYNDROME WITH ANTI-IGLON5 ANTIBODIES: A CASE REPORT 80
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 79
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 78
Novel TRIM32 mutation in sarcotubular myopathy 78
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 72
Genetic approach to neuromuscular disorders in the NGS era 71
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 65
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 64
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 64
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 61
MND Phenotypes Differentiation: The Role of Multimodal Characterization at the Time of Diagnosis 60
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy 56
Case report: Episodic ataxia without ataxia? 51
EARLY NOCICEPTIVE EVOKED POTENTIALS (NEPS) IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND CHARCOTMARIE-TOOTH DISEASE TYPE 1A 50
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy 48
THE BEHAVIOR OF FAST A. FIBERS IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A AND HEREDITARY TRANSTHYRETIN AMYLOIDOSIS 47
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis 41
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 38
Comparing the Impact of COVID-19 on Vaccinated and Unvaccinated Patients Affected by Myasthenia Gravis 37
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question! 37
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus 36
null 35
TESTING OVERWORK WEAKNESS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE: IS IT TRUE OR FALSE? 33
Psychological resilience is protective against cognitive deterioration in motor neuron diseases 31
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 28
RFC1 expansions are a common cause of idiopathic sensory neuropathy 28
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 27
null 21
Case report: A single novel calpain 3 gene variant associated with mild myopathy 11
Correction to: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy(Neurological Sciences, (2024), 10.1007/s10072-024-07494-9) 4
Is gaitrite system sensitive in discriminating gait pattern of subjects affected by Charcot Marie tooth? A pilot study 3
Totale 3.370
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Categoria #
all - tutte 14.446
article - articoli 14.132
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 28.578
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021131 0 0 0 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
2024/20251.103 48 60 22 75 111 103 111 202 68 63 125 115
2025/2026551 247 66 127 111 0 0 0 0 0 0 0 0
Totale 3.370