IRIS
GEMELLI, CHIARA
 Distribuzione geografica
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Continente #
EU - Europa 3.225
AS - Asia 260
SA - Sud America 42
NA - Nord America 37
AF - Africa 1
Totale 3.565
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Nazione #
IT - Italia 3.210
SG - Singapore 115
VN - Vietnam 63
CN - Cina 57
US - Stati Uniti d'America 29
BR - Brasile 23
AR - Argentina 11
HK - Hong Kong 9
MX - Messico 8
IQ - Iraq 4
NL - Olanda 4
EC - Ecuador 3
ES - Italia 3
BD - Bangladesh 2
IL - Israele 2
PL - Polonia 2
PY - Paraguay 2
RU - Federazione Russa 2
AT - Austria 1
CL - Cile 1
DE - Germania 1
DZ - Algeria 1
GB - Regno Unito 1
ID - Indonesia 1
IN - India 1
JO - Giordania 1
JP - Giappone 1
KZ - Kazakistan 1
NP - Nepal 1
PE - Perù 1
SY - Repubblica araba siriana 1
TR - Turchia 1
UA - Ucraina 1
VE - Venezuela 1
Totale 3.565
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Città #
Genoa 1.639
Genova 908
Vado Ligure 355
Rapallo 286
Singapore 35
Ho Chi Minh City 27
Beijing 26
Hanoi 15
Bordighera 11
Ashburn 9
Hong Kong 9
Mexico City 6
Breda 4
Los Angeles 4
Baghdad 3
Bắc Ninh 3
Haiphong 3
Berazategui 2
Curitiba 2
New York 2
Phủ Lý 2
Rome 2
Rosario 2
Sestri Levante 2
Warsaw 2
Algiers 1
Almaty 1
Ambato 1
Amman 1
Asunción 1
Belo Horizonte 1
Boardman 1
Boulogne Sur Mer 1
Brasília 1
Buenos Aires 1
Bến Cầu 1
Caetanópolis 1
Campo Belo 1
Chongqing 1
Ciudad del Este 1
Da Nang 1
Dallas 1
Damascus 1
Dnipro 1
Guangzhou 1
Guapiaçu 1
Guayaquil 1
Itaberaí 1
Itapetinga 1
José C. Paz 1
Kolkata 1
Magé 1
Makhachkala 1
Manchester 1
Morón 1
Nam Định 1
Nuremberg 1
Oberá 1
Orem 1
Palhoça 1
Petrolina 1
Phoenix 1
Piracicaba 1
Pirapora 1
Porto Alegre 1
Posadas 1
Querétaro 1
Quảng Ngãi 1
Quận Bình Thạnh 1
Rondon do Pará 1
Salvador 1
San Jose 1
San Luis Potosí City 1
Santiago 1
Santo André 1
Sarare 1
Secaucus 1
Serpukhov 1
Sete Lagoas 1
Sulaymaniyah 1
Sumaré 1
São José dos Pinhais 1
Tatuí 1
Tel Aviv 1
Tianjin 1
Tokyo 1
Uberaba 1
Vienna 1
Yên Bái 1
Totale 3.423
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Nome #
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 172
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 170
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 156
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 149
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 145
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 144
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 144
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 137
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 133
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 130
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 115
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 108
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 101
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 100
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 95
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 94
ATYPICAL STIFF PERSON SYNDROME WITH ANTI-IGLON5 ANTIBODIES: A CASE REPORT 87
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 87
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 85
Novel TRIM32 mutation in sarcotubular myopathy 84
Genetic approach to neuromuscular disorders in the NGS era 81
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 81
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 75
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 75
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 70
MND Phenotypes Differentiation: The Role of Multimodal Characterization at the Time of Diagnosis 68
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 68
EARLY NOCICEPTIVE EVOKED POTENTIALS (NEPS) IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND CHARCOTMARIE-TOOTH DISEASE TYPE 1A 60
Case report: Episodic ataxia without ataxia? 59
THE BEHAVIOR OF FAST A. FIBERS IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A AND HEREDITARY TRANSTHYRETIN AMYLOIDOSIS 52
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus 52
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy 52
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 47
Comparing the Impact of COVID-19 on Vaccinated and Unvaccinated Patients Affected by Myasthenia Gravis 45
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis 42
TESTING OVERWORK WEAKNESS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE: IS IT TRUE OR FALSE? 39
Psychological resilience is protective against cognitive deterioration in motor neuron diseases 39
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 38
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question! 38
null 35
RFC1 expansions are a common cause of idiopathic sensory neuropathy 30
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 27
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Is gaitrite system sensitive in discriminating gait pattern of subjects affected by Charcot Marie tooth? A pilot study 21
Case report: A single novel calpain 3 gene variant associated with mild myopathy 20
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) 8
Totale 3.679
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Categoria #
all - tutte 14.975
article - articoli 14.633
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.608
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202188 0 0 0 0 0 6 5 18 10 21 8 20
2021/2022243 9 7 9 19 15 15 10 49 18 29 17 46
2022/2023334 26 40 7 35 45 50 1 23 55 2 42 8
2023/2024384 14 23 17 64 17 60 35 28 25 17 26 58
2024/20251.088 46 57 22 75 109 102 110 200 68 62 124 113
2025/2026905 244 65 122 150 289 35 0 0 0 0 0 0
Totale 3.679