IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 2.493
AS - Asia 1.868
EU - Europa 703
SA - Sud America 382
AF - Africa 22
OC - Oceania 3
Totale 5.471
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Nazione #
US - Stati Uniti d'America 2.431
SG - Singapore 742
CN - Cina 676
BR - Brasile 331
RO - Romania 269
HK - Hong Kong 258
IT - Italia 128
RU - Federazione Russa 90
VN - Vietnam 67
DE - Germania 44
CA - Canada 38
GB - Regno Unito 38
IN - India 33
SE - Svezia 28
AT - Austria 21
FI - Finlandia 19
MX - Messico 17
BD - Bangladesh 15
JP - Giappone 15
NL - Olanda 15
AR - Argentina 14
ZA - Sudafrica 13
ES - Italia 10
PL - Polonia 10
EC - Ecuador 9
IQ - Iraq 9
CO - Colombia 7
FR - Francia 7
TR - Turchia 7
CL - Cile 6
IR - Iran 6
LT - Lituania 6
UZ - Uzbekistan 6
ID - Indonesia 5
PY - Paraguay 5
VE - Venezuela 5
CZ - Repubblica Ceca 4
SA - Arabia Saudita 4
AU - Australia 3
LB - Libano 3
MY - Malesia 3
PS - Palestinian Territory 3
UA - Ucraina 3
UY - Uruguay 3
AZ - Azerbaigian 2
BE - Belgio 2
EG - Egitto 2
GR - Grecia 2
HU - Ungheria 2
IE - Irlanda 2
JO - Giordania 2
MA - Marocco 2
PK - Pakistan 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
AO - Angola 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CH - Svizzera 1
CY - Cipro 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
NP - Nepal 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
RS - Serbia 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 5.471
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Città #
Dallas 1.527
Singapore 388
Ashburn 305
Hong Kong 257
Beijing 135
Shanghai 131
Hefei 100
Milan 48
Los Angeles 42
New York 39
São Paulo 36
Washington 35
Ho Chi Minh City 31
Moscow 29
Guangzhou 27
Boardman 18
Seattle 17
Brooklyn 16
Montreal 15
Tokyo 15
Hanoi 14
Santa Clara 14
Jiaxing 13
Orem 13
Poplar 13
Helsinki 12
Nuremberg 12
The Dalles 12
Amsterdam 11
Atlanta 11
Cesano Boscone 11
Chennai 11
Chicago 11
Denver 11
Houston 10
Munich 10
Phoenix 10
Toronto 10
Bengaluru 9
Johannesburg 9
Rio de Janeiro 9
Warsaw 9
Stockholm 8
Lawrence 7
Princeton 7
Vienna 7
Xi'an 7
Belo Horizonte 6
Boston 6
Brasília 6
Salvador 6
Bonate Sotto 5
Falkenstein 5
Hangzhou 5
Manchester 5
Mexico City 5
Porto Alegre 5
Rome 5
Assago 4
Brescia 4
Columbus 4
Curitiba 4
Goiânia 4
Joinville 4
Lappeenranta 4
London 4
Mumbai 4
Presezzo 4
Querétaro 4
Quito 4
Reston 4
San Francisco 4
Santo André 4
Shenzhen 4
Sorocaba 4
Taizhou 4
Acton 3
Ankara 3
Asunción 3
Baghdad 3
Betim 3
Changsha 3
Council Bluffs 3
Duque de Caxias 3
Guarulhos 3
Islington 3
Kuala Lumpur 3
Manaus 3
Mauá 3
Pelotas 3
Pittsburgh 3
Praia Grande 3
Quanzhou 3
Recife 3
Samarkand 3
Santiago 3
Slavyansk-na-Kubani 3
São José do Rio Preto 3
Turku 3
Wuxi 3
Totale 3.695
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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) 1.318
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 130
Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration 126
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 119
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13 112
PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect 107
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 85
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 75
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 71
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 69
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 69
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 67
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 65
Expanding the spectrum of genes responsible for hereditary motor neuropathies 63
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 60
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 59
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 58
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 56
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 55
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 55
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 54
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 53
DRG neuron/schwann cells myelinating cocultures 53
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 51
A common molecular basis for three inherited kidney stone diseases 49
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 48
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 47
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 45
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 44
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 44
The extracellular matrix affects axonal regeneration in peripheral neuropathies 43
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 43
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 43
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 42
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 41
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 41
A new candidate region for the positional cloning of the XLP gene 40
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 40
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 40
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) 39
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 39
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 39
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 39
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 38
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 38
Vimentin regulates peripheral nerve myelination 38
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 36
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 36
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 35
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 35
Foot pad skin biopsy in mouse models of hereditary neuropathy 35
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 35
Frequency of RET mutations in long- and short-segment Hirschsprung disease 34
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 34
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 33
Myotubularins and associated neuromuscular diseases 33
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 33
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 32
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 32
Myelin Biology 32
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 31
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 31
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 31
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 31
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 31
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 31
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 31
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 30
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 30
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 29
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 29
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 29
SEVEN EXAMPLES OF EXPANDABLE CLINICAL SPECTRUM OF NEUROMUSCULAR GENES 29
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 29
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 29
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 29
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 29
Nerve pathology in animal models of neuropathies 28
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 28
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 28
The genetics of anorectal malformations: A complex matter 28
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 28
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 28
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 27
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 27
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 27
Expanding the phenotype of neuromuscular disorders: NGS reveals new genes responsible for recessive motor neuropathies 27
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 27
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 27
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 26
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 26
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 26
Exclusion of the SCN2B gene as candidate for CMT4B 25
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 25
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 25
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 24
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 24
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 22
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 21
Role of the MTMR2 phospholipid phosphatase in membrane homeostasis during Schwann cell myelination 21
Totale 5.529
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Categoria #
all - tutte 28.508
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 28.508
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211 0 0 0 0 0 0 1 0 0 0 0 0
2021/20225 0 0 0 3 1 0 1 0 0 0 0 0
2022/2023136 15 11 2 0 0 2 1 4 0 95 1 5
2023/2024476 7 31 57 96 50 121 6 36 0 17 10 45
2024/20251.677 130 38 82 52 72 109 537 141 188 92 106 130
2025/20263.302 365 509 1.336 591 410 91 0 0 0 0 0 0
Totale 5.599