CARECCHIO, MIRYAM
 Distribuzione geografica
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Continente #
NA - Nord America 3.575
EU - Europa 321
AS - Asia 239
AF - Africa 3
SA - Sud America 1
Totale 4.139
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Nazione #
US - Stati Uniti d'America 3.573
CN - Cina 192
IT - Italia 164
FI - Finlandia 40
SE - Svezia 34
VN - Vietnam 34
GB - Regno Unito 31
DE - Germania 16
FR - Francia 10
RU - Federazione Russa 5
IE - Irlanda 4
IN - India 4
NL - Olanda 3
UA - Ucraina 3
AE - Emirati Arabi Uniti 2
BE - Belgio 2
CA - Canada 2
CH - Svizzera 2
DZ - Algeria 2
LV - Lettonia 2
RO - Romania 2
TR - Turchia 2
BR - Brasile 1
HR - Croazia 1
ID - Indonesia 1
IR - Iran 1
LT - Lituania 1
MA - Marocco 1
MY - Malesia 1
NP - Nepal 1
PL - Polonia 1
SG - Singapore 1
Totale 4.139
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Città #
Fairfield 866
Woodbridge 325
Seattle 314
Cambridge 299
Ashburn 298
Houston 295
Chandler 246
Wilmington 192
San Diego 95
Ann Arbor 82
Medford 76
Princeton 76
Beijing 64
Des Moines 53
Helsinki 36
Dong Ket 34
Padova 32
Roxbury 22
Milan 17
New York 12
Jinan 10
London 10
Guangzhou 8
Rome 7
Changsha 6
Como 6
Nanjing 6
Ogden 6
Shenyang 6
Taiyuan 6
Bologna 5
Falls Church 5
Hounslow 5
Ningbo 5
Sesto San Giovanni 5
Shanghai 5
Boardman 4
Dublin 4
Gavirate 4
Nanchang 4
Paris 4
Taizhou 4
Verona 4
Borås 3
Hangzhou 3
Hebei 3
Kansas City 3
Kharkiv 3
Lappeenranta 3
Modena 3
Moscow 3
Norwalk 3
San Mateo 3
Acton 2
Bagnara Calabra 2
Bollate 2
Brussels 2
Buffalo 2
Busto Arsizio 2
Cernusco sul Naviglio 2
Chennai 2
Dubai 2
Edinburgh 2
Haikou 2
Hyderabad 2
Iasi 2
Kilburn 2
Lanzhou 2
Melegnano 2
Naples 2
New Bedfont 2
Olbia 2
Prescot 2
Riga 2
Rockville 2
Roosevelt 2
Rovigo 2
Tianjin 2
Turate 2
Whetstone 2
Zhengzhou 2
Adana 1
Boydton 1
Brentford 1
Böblingen 1
Camden 1
Cassano Magnago 1
Chengdu 1
Cisterna di Latina 1
Dallas 1
Dolianova 1
Fiumicino 1
Fuzhou 1
Gatchina 1
Genoa 1
Genova 1
Hefei 1
Isola del Gran Sasso 1
Istanbul 1
Kathmandu 1
Totale 3.668
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Nome #
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation 152
Inborn errors of coenzyme a metabolism and neurodegeneration 94
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations 87
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients 82
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 82
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 79
Recessive mutations in >VPS13D cause childhood onset movement disorders 79
Peripheral nervous system involvement in Parkinson's disease: Evidence and controversies 78
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b 77
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12 75
Adult diagnosis of Cockayne syndrome 72
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay 71
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation 69
SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment 67
Harmful iron-calcium relationship in pantothenate kinase associated neurodegeneration 66
Cerebrospinal fluid biomarkers in progranulin mutations carriers 66
Diagnosis and treatment of pediatric onset isolated dystonia 65
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum 64
Primary brain calcification: an international study reporting novel variants and associated phenotypes 63
Emerging Monogenic Complex Hyperkinetic Disorders 63
Impact of social and mobility restrictions in Parkinson's disease during COVID-19 lockdown 63
CANS: Childhood acute neuropsychiatric syndromes 62
Growth arrest specific 6 concentration is increased in the cerebrospinal fluid of patients with Alzheimer's disease 62
ATP1A3-related disorders: An update 62
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype 61
Recent advances in genetics of chorea 60
Olfactory and rhinological evaluations in SARS-CoV-2 patients complaining of olfactory loss. 60
Complex movement disorders in primary antiphospholipid syndrome: A case report 59
Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: A case report 59
Osteopontin is increased in the cerebrospinal fluid of patients with Alzheimer's disease and its levels correlate with cognitive decline 57
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus 55
Revisiting the molecular mechanism of neurological manifestations in antiphospholipid syndrome: Beyond vascular damage 55
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study 54
Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism 54
DYT2 screening in early-onset isolated dystonia 53
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay 51
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients 51
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia 51
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity 50
Paroxysmal Dyskinesias 50
Parkinson disease in Gaucher disease 49
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease 49
Atypical Parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review 49
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants 49
Movement disorders in metabolic diseases in adulthood 49
The relevance of gene panels in movement disorders diagnosis: A lab perspective 47
Defective Fas-mediated T-cell apoptosis predicts acute onset CIDP 46
Movement disorders in adult patients with classical galactosemia 46
Levodopa-induced belly dancer's dyskinesias in Parkinson's disease: Report of one case 46
The length of SNCA Rep1 microsatellite may influence cognitive evolution in Parkinson's disease 45
Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype 45
The role of osteopontin in neurodegenerative diseases 45
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement 44
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large italian kindred 44
Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” (Brain and Development (2019) 41(3) (250–256), (S0387760418304959), (10.1016/j.braindev.2018.10.001)) 44
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism 43
Movement disorders in adult surviving patients with maple syrup urine disease 41
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria 41
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series 41
Teaching NeuroImages: Progressive asymmetric parkinsonism and tendon xanthomas 40
Effect of Intensive Rehabilitation Program in Thermal Water on a Group of People with Parkinson’s Disease: A Retrospective Longitudinal Study 40
Predicting cognitive decline in Parkinson's disease: Can we ask the genes? 39
GTP cyclohydrolase 1 mutations and Parkinson's disease: New insights beyond DOPA-responsive dystonia 37
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? 35
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia 34
NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome 31
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease 29
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders 29
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 28
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome 28
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease (Apr, 10.1007/s10072-021-05264-5, 2021) 27
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort 26
Clinical, cognitive, and morphometric profiles of progressive supranuclear palsy phenotypes 25
Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: potential relevance of antibody titers in monitoring treatment response 24
Functional and idiopathic cervical dystonia in two family members: A challenging diagnosis 23
The clinical and genetic spectrum of primary familial brain calcification 23
A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation 20
Long-term safety, discontinuation and mortality in an Italian cohort with advanced Parkinson's disease on levodopa/carbidopa intestinal gel infusion 20
Correction to: Long-term safety, discontinuation and mortality in an Italian cohort with advanced Parkinson’s disease on levodopa/carbidopa intestinal gel infusion (Journal of Neurology, (2022), 269, 10, (5606-5614), 10.1007/s00415-022-11269-7) 19
Immunity and inflammation in neurodegenerative diseases 16
Patient affected by beta-propeller protein-associated neurodegeneration: A therapeutic attempt with iron vhelation therapy 15
Duodenal alpha-Synuclein Pathology and Enteric Gliosis in Advanced Parkinson's Disease 14
Adult-onset KMT2B-related dystonia 13
GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis 13
Inherited Isolated Dystonia in Children 13
Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation 8
Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging 8
Correction to: A case of childhood‑onset dystonia‑parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation 5
Variants in ATP5F1B are associated with dominantly inherited dystonia 5
Scoping Review on ADCY5-Related Movement Disorders 5
Neurotransmitter and receptor systems in the subthalamic nucleus 5
ANO3 as a Cause of Early-Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution 4
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia 2
Reply to: "Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant" 1
Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson’s Disease and Movement Disorders, and the Italian Network on Botulinum Toxin 1
Totale 4.248
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Categoria #
all - tutte 20.990
article - articoli 20.606
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 384
Totale 41.980
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201918 0 0 0 0 0 0 0 0 0 2 7 9
2019/2020958 5 9 1 6 204 95 148 128 151 118 48 45
2020/20211.188 137 58 163 37 42 31 22 143 139 125 111 180
2021/20221.075 24 98 131 89 53 81 67 135 66 32 81 218
2022/2023581 136 57 25 38 85 57 3 56 74 4 31 15
2023/2024408 16 67 64 37 52 46 59 27 21 19 0 0
Totale 4.248