IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 3.173
AS - Asia 2.238
EU - Europa 2.187
SA - Sud America 413
AF - Africa 33
OC - Oceania 3
Totale 8.047
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Nazione #
US - Stati Uniti d'America 3.083
RU - Federazione Russa 1.344
CN - Cina 828
SG - Singapore 778
BR - Brasile 349
RO - Romania 270
HK - Hong Kong 247
IT - Italia 219
VN - Vietnam 161
FR - Francia 94
BD - Bangladesh 58
DE - Germania 53
CA - Canada 51
IN - India 50
GB - Regno Unito 49
SE - Svezia 28
NL - Olanda 25
MX - Messico 23
AT - Austria 22
AR - Argentina 21
FI - Finlandia 21
JP - Giappone 17
ZA - Sudafrica 15
ES - Italia 14
TR - Turchia 13
PL - Polonia 11
EC - Ecuador 10
IQ - Iraq 10
CO - Colombia 9
ID - Indonesia 9
CL - Cile 8
SA - Arabia Saudita 8
UZ - Uzbekistan 8
IR - Iran 6
LT - Lituania 6
VE - Venezuela 6
BE - Belgio 5
JM - Giamaica 5
MY - Malesia 5
NP - Nepal 5
PK - Pakistan 5
PY - Paraguay 5
AE - Emirati Arabi Uniti 4
CZ - Repubblica Ceca 4
LB - Libano 4
TN - Tunisia 4
AU - Australia 3
CH - Svizzera 3
DZ - Algeria 3
EG - Egitto 3
HR - Croazia 3
JO - Giordania 3
PH - Filippine 3
PS - Palestinian Territory 3
TH - Thailandia 3
UA - Ucraina 3
UY - Uruguay 3
AZ - Azerbaigian 2
ET - Etiopia 2
GR - Grecia 2
HU - Ungheria 2
IE - Irlanda 2
LI - Liechtenstein 2
MA - Marocco 2
NI - Nicaragua 2
RS - Serbia 2
AG - Antigua e Barbuda 1
AO - Angola 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BZ - Belize 1
CG - Congo 1
CY - Cipro 1
DO - Repubblica Dominicana 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
IL - Israele 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
ME - Montenegro 1
MR - Mauritania 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 8.047
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Città #
Dallas 1.534
Ashburn 410
Singapore 402
San Jose 357
Moscow 279
Hong Kong 240
Beijing 142
Shanghai 130
Hefei 98
Lauterbourg 84
Ho Chi Minh City 71
Milan 65
New York 52
Los Angeles 47
Orem 41
São Paulo 40
Hanoi 37
Washington 36
Guangzhou 25
Santa Clara 23
Council Bluffs 19
Boardman 18
Montreal 18
Seattle 18
Brooklyn 17
Chennai 17
Tokyo 17
Nuremberg 16
Houston 15
Atlanta 14
Chicago 14
Toronto 14
Denver 13
Jiaxing 13
Poplar 13
Amsterdam 12
Helsinki 12
Phoenix 12
The Dalles 12
Cesano Boscone 11
Johannesburg 11
Munich 11
Bengaluru 9
Rio de Janeiro 9
Warsaw 9
Manchester 8
Rome 8
Stockholm 8
Vienna 8
Lawrence 7
Princeton 7
Xi'an 7
Belo Horizonte 6
Boston 6
Brescia 6
Frankfurt am Main 6
London 6
Mexico City 6
Mumbai 6
Salvador 6
Ankara 5
Bonate Sotto 5
Brasília 5
Buffalo 5
Columbus 5
Falkenstein 5
Joinville 5
Lappeenranta 5
Madrid 5
Porto Alegre 5
Quito 5
Riyadh 5
San Francisco 5
Shenzhen 5
Sorocaba 5
Assago 4
Baghdad 4
Curitiba 4
Da Nang 4
Florence 4
Goiânia 4
Haiphong 4
Hangzhou 4
Kuala Lumpur 4
New Delhi 4
Presezzo 4
Querétaro 4
Reston 4
Santo André 4
Vicenza 4
Wuxi 4
Zhengzhou 4
Acton 3
Amman 3
Bari 3
Betim 3
Changsha 3
Concepción 3
Dubai 3
Duque de Caxias 3
Totale 4.725
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Nome #
118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy) 1.376
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 208
Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration 165
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13 165
PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect 140
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 118
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 113
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 111
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 108
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 107
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 99
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 96
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 95
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 94
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 94
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 93
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 87
Expanding the spectrum of genes responsible for hereditary motor neuropathies 87
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 86
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 85
A common molecular basis for three inherited kidney stone diseases 85
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 84
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 84
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 83
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 82
DRG neuron/schwann cells myelinating cocultures 79
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 78
Correction to: Molecular mechanisms and therapeutic strategies for neuromuscular diseases (Cellular and Molecular Life Sciences, (2024), 81, 1, (198), 10.1007/s00018-024-05229-9) 75
A new candidate region for the positional cloning of the XLP gene 73
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 72
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 71
The extracellular matrix affects axonal regeneration in peripheral neuropathies 69
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 68
Vimentin regulates peripheral nerve myelination 67
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 65
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 65
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 64
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 64
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 64
Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature 64
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 63
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 62
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 61
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 61
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 61
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 60
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 58
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 58
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 57
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 57
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 56
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 56
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 56
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 56
VOCAL CORD PARALYSIS IN CHARCOT-MARIE-TOOTH TYPE 4B1 DISEASE ASSOCIATED WITH A NOVEL MUTATION IN THE MYOTUBULARIN-RELATED PROTEIN 2 GENE: A CASE REPORT AND REVIEW OF THE LITERATUREPPP 55
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 55
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 55
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 55
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 55
Myotubularins and associated neuromuscular diseases 54
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 54
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 54
Frequency of RET mutations in long- and short-segment Hirschsprung disease 54
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 54
Myelin Biology 53
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 53
VOCAL CORD PARALYSIS IN CHARCOT-MARIE-TOOTH TYPE 4B1 DISEASE ASSOCIATED WITH A NOVEL MUTATION IN THE MYOTUBULARIN-RELATED PROTEIN 2 GENE: A CASE REPORT AND REVIEW OF THE LITERATURE 53
Molecular mechanisms and therapeutic strategies for neuromuscular diseases. 53
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 52
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 52
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 52
The genetics of anorectal malformations: A complex matter 52
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 51
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 51
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 51
Foot pad skin biopsy in mouse models of hereditary neuropathy 51
Nerve pathology in animal models of neuropathies 50
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 50
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 50
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 50
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 48
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 47
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 47
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 47
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 47
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 46
SEVEN EXAMPLES OF EXPANDABLE CLINICAL SPECTRUM OF NEUROMUSCULAR GENES 46
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy 46
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 44
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 44
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 44
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 44
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 43
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 42
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma 42
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 42
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 42
Expanding the phenotype of neuromuscular disorders: NGS reveals new genes responsible for recessive motor neuropathies 41
Exclusion of the SCN2B gene as candidate for CMT4B 40
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 39
Totale 8.055
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Categoria #
all - tutte 35.774
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 35.774
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20225 0 0 0 3 1 0 1 0 0 0 0 0
2022/2023135 15 11 2 0 0 2 1 4 0 94 1 5
2023/2024458 7 29 53 94 48 120 6 35 0 16 9 41
2024/20251.647 127 38 82 48 72 108 533 138 182 90 102 127
2025/20265.889 345 506 1.330 561 405 144 587 324 1.230 221 108 128
2026/202743 43 0 0 0 0 0 0 0 0 0 0 0
Totale 8.180