IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 2.960
AS - Asia 2.164
EU - Europa 2.114
SA - Sud America 411
AF - Africa 33
OC - Oceania 3
Totale 7.685
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Nazione #
US - Stati Uniti d'America 2.889
RU - Federazione Russa 1.344
CN - Cina 803
SG - Singapore 773
BR - Brasile 349
RO - Romania 270
HK - Hong Kong 247
VN - Vietnam 160
IT - Italia 154
FR - Francia 94
DE - Germania 52
IN - India 49
GB - Regno Unito 48
CA - Canada 41
SE - Svezia 28
AT - Austria 22
BD - Bangladesh 22
MX - Messico 22
NL - Olanda 22
FI - Finlandia 21
AR - Argentina 19
JP - Giappone 17
ZA - Sudafrica 15
ES - Italia 14
TR - Turchia 12
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
MY - Malesia 5
PK - Pakistan 5
PY - Paraguay 5
CZ - Repubblica Ceca 4
LB - Libano 4
NP - Nepal 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
UA - Ucraina 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BE - Belgio 2
ET - Etiopia 2
GR - Grecia 2
HU - Ungheria 2
IE - Irlanda 2
LI - Liechtenstein 2
MA - Marocco 2
RS - Serbia 2
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
IL - Israele 1
JM - Giamaica 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
TH - Thailandia 1
TT - Trinidad e Tobago 1
Totale 7.685
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Città #
Dallas 1.528
Ashburn 402
Singapore 397
San Jose 282
Moscow 279
Hong Kong 240
Beijing 139
Shanghai 130
Hefei 98
Lauterbourg 84
Ho Chi Minh City 71
Milan 46
Los Angeles 45
New York 44
São Paulo 40
Orem 39
Hanoi 36
Washington 35
Guangzhou 24
Santa Clara 19
Boardman 18
Brooklyn 17
Chennai 17
Seattle 17
Tokyo 17
Montreal 16
Nuremberg 16
Chicago 13
Council Bluffs 13
Houston 13
Jiaxing 13
Poplar 13
Amsterdam 12
Denver 12
Helsinki 12
The Dalles 12
Atlanta 11
Cesano Boscone 11
Johannesburg 11
Munich 11
Phoenix 11
Toronto 11
Bengaluru 9
Rio de Janeiro 9
Warsaw 9
Manchester 8
Stockholm 8
Vienna 8
Lawrence 7
Princeton 7
Xi'an 7
Belo Horizonte 6
Boston 6
Frankfurt am Main 6
London 6
Mumbai 6
Salvador 6
Bonate Sotto 5
Brasília 5
Brescia 5
Falkenstein 5
Joinville 5
Lappeenranta 5
Madrid 5
Mexico City 5
Porto Alegre 5
Quito 5
Riyadh 5
Rome 5
Shenzhen 5
Sorocaba 5
Ankara 4
Assago 4
Baghdad 4
Columbus 4
Curitiba 4
Da Nang 4
Goiânia 4
Haiphong 4
Hangzhou 4
Kuala Lumpur 4
New Delhi 4
Presezzo 4
Querétaro 4
Reston 4
Santo André 4
Wuxi 4
Zhengzhou 4
Acton 3
Amman 3
Betim 3
Changsha 3
Concepción 3
Duque de Caxias 3
Greensboro 3
Guarulhos 3
Hải Dương 3
Islington 3
Manaus 3
Mauá 3
Totale 4.557
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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) 1.370
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 157
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13 157
Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration 156
PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect 134
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 114
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 109
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 103
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 103
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 96
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 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 92
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 91
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 87
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 85
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 84
A common molecular basis for three inherited kidney stone diseases 84
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 83
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 82
Expanding the spectrum of genes responsible for hereditary motor neuropathies 82
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 81
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 80
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 79
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 78
DRG neuron/schwann cells myelinating cocultures 77
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) 73
A new candidate region for the positional cloning of the XLP gene 71
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 71
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 69
The extracellular matrix affects axonal regeneration in peripheral neuropathies 65
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 64
Vimentin regulates peripheral nerve myelination 64
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 63
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 63
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 63
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 63
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 62
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 62
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 59
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 59
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 59
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 58
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 57
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 56
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 56
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 56
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 56
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 56
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 55
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 55
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 54
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 54
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 54
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 54
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 53
Myotubularins and associated neuromuscular diseases 53
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 53
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 53
Frequency of RET mutations in long- and short-segment Hirschsprung disease 53
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 52
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 52
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 52
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 52
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 51
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 51
Myelin Biology 51
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 50
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 50
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 50
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 50
Molecular mechanisms and therapeutic strategies for neuromuscular diseases. 50
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 49
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 49
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 49
The genetics of anorectal malformations: A complex matter 48
Foot pad skin biopsy in mouse models of hereditary neuropathy 48
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 47
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 47
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 47
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 46
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 46
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 46
Nerve pathology in animal models of neuropathies 45
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 45
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 45
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 44
SEVEN EXAMPLES OF EXPANDABLE CLINICAL SPECTRUM OF NEUROMUSCULAR GENES 44
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 43
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 43
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 42
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 42
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 42
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 41
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 41
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 41
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 40
Exclusion of the SCN2B gene as candidate for CMT4B 40
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 38
Expanding the phenotype of neuromuscular disorders: NGS reveals new genes responsible for recessive motor neuropathies 38
Totale 7.715
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Categoria #
all - tutte 32.156
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 32.156
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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
2025/20265.566 345 506 1.330 561 405 144 587 324 1.230 134 0 0
Totale 7.814