IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 3.756
AS - Asia 2.280
EU - Europa 2.215
SA - Sud America 415
Continente sconosciuto - Info sul continente non disponibili 133
AF - Africa 33
OC - Oceania 3
Totale 8.835
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Nazione #
US - Stati Uniti d'America 3.646
RU - Federazione Russa 1.344
CN - Cina 836
SG - Singapore 790
BR - Brasile 349
RO - Romania 270
HK - Hong Kong 252
IT - Italia 241
VN - Vietnam 164
FR - Francia 96
BD - Bangladesh 63
CA - Canada 61
DE - Germania 56
IN - India 51
GB - Regno Unito 49
SE - Svezia 28
NL - Olanda 25
MX - Messico 24
AT - Austria 22
AR - Argentina 21
FI - Finlandia 21
JP - Giappone 19
ZA - Sudafrica 15
ES - Italia 14
TR - Turchia 13
EC - Ecuador 11
PL - Polonia 11
IQ - Iraq 10
CL - Cile 9
CO - Colombia 9
ID - Indonesia 9
SA - Arabia Saudita 8
UZ - Uzbekistan 8
PH - Filippine 7
BE - Belgio 6
IR - Iran 6
JM - Giamaica 6
LT - Lituania 6
VE - Venezuela 6
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
PS - Palestinian Territory 3
TH - Thailandia 3
UA - Ucraina 3
UY - Uruguay 3
AZ - Azerbaigian 2
CR - Costa Rica 2
ET - Etiopia 2
GR - Grecia 2
GT - Guatemala 2
HN - Honduras 2
HU - Ungheria 2
IE - Irlanda 2
LI - Liechtenstein 2
MA - Marocco 2
NI - Nicaragua 2
PR - Porto Rico 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
GD - Grenada 1
GE - Georgia 1
IL - Israele 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LC - Santa Lucia 1
ME - Montenegro 1
MM - Myanmar 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 8.702
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Città #
Dallas 1.537
San Jose 431
Ashburn 428
Singapore 413
Moscow 279
Hong Kong 245
Beijing 145
Shanghai 132
Council Bluffs 118
Hefei 98
Lauterbourg 84
Milan 73
Ho Chi Minh City 71
Phoenix 63
Los Angeles 55
New York 54
Orem 44
São Paulo 40
Washington 39
Hanoi 38
Santa Clara 34
Guangzhou 25
Montreal 19
Boardman 18
Chicago 18
Seattle 18
Brooklyn 17
Chennai 17
Tokyo 17
Atlanta 16
Houston 16
Nuremberg 16
Toronto 15
Denver 14
Jiaxing 13
Poplar 13
Amsterdam 12
Helsinki 12
The Dalles 12
Cesano Boscone 11
Johannesburg 11
Munich 11
Rome 11
Bengaluru 9
Boston 9
Rio de Janeiro 9
San Francisco 9
Warsaw 9
Manchester 8
Pittsburgh 8
Princeton 8
Stockholm 8
Vienna 8
Buffalo 7
Charlotte 7
Indpls 7
Lawrence 7
Mexico City 7
Newark 7
Philadelphia 7
Xi'an 7
Belo Horizonte 6
Brescia 6
Columbus 6
Detroit 6
Frankfurt am Main 6
London 6
Mumbai 6
Salvador 6
Vancouver 6
Ankara 5
Bologna 5
Bonate Sotto 5
Brasília 5
Falkenstein 5
Joinville 5
Lappeenranta 5
Madrid 5
Porto Alegre 5
Quito 5
Riyadh 5
Shenzhen 5
Sorocaba 5
Assago 4
Atlantic City 4
Baghdad 4
Cagayan de Oro 4
Curitiba 4
Da Nang 4
East Lansing 4
Florence 4
Goiânia 4
Haiphong 4
Hangzhou 4
Kingston 4
Kuala Lumpur 4
Minneapolis 4
New Delhi 4
Omaha 4
Peoria 4
Totale 5.081
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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) 1.379
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13 327
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 223
Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration 173
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 165
PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect 145
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 130
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 129
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 115
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 113
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 103
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 101
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 100
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 99
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 97
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 96
Expanding the spectrum of genes responsible for hereditary motor neuropathies 94
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 92
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 91
DRG neuron/schwann cells myelinating cocultures 91
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 90
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 90
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 88
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 87
A common molecular basis for three inherited kidney stone diseases 87
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 85
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 82
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) 80
A new candidate region for the positional cloning of the XLP gene 76
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 76
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 73
The extracellular matrix affects axonal regeneration in peripheral neuropathies 73
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 73
Vimentin regulates peripheral nerve myelination 72
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 70
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 70
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 70
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 69
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 69
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 67
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 67
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 66
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 66
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 65
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 65
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 64
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 63
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 62
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 61
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 61
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 60
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 60
Molecular mechanisms and therapeutic strategies for neuromuscular diseases. 60
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 60
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 59
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 59
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 59
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 58
Myotubularins and associated neuromuscular diseases 58
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 58
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 58
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 58
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 58
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 58
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 58
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 58
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 57
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 57
Frequency of RET mutations in long- and short-segment Hirschsprung disease 57
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 56
Myelin Biology 56
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 55
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 55
The genetics of anorectal malformations: A complex matter 54
Foot pad skin biopsy in mouse models of hereditary neuropathy 54
Nerve pathology in animal models of neuropathies 53
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 53
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 53
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 52
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 52
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 52
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 52
SEVEN EXAMPLES OF EXPANDABLE CLINICAL SPECTRUM OF NEUROMUSCULAR GENES 51
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 51
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 50
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 49
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 49
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 49
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 48
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 47
Expanding the phenotype of neuromuscular disorders: NGS reveals new genes responsible for recessive motor neuropathies 46
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 46
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 46
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 45
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 44
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 44
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 44
Exclusion of the SCN2B gene as candidate for CMT4B 43
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 43
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 41
Totale 8.693
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Categoria #
all - tutte 38.740
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 38.740
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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
2026/2027698 128 415 155 0 0 0 0 0 0 0 0 0
Totale 8.835