IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
AS - Asia 795
NA - Nord America 546
EU - Europa 537
SA - Sud America 129
AF - Africa 4
OC - Oceania 1
Totale 2.012
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Nazione #
US - Stati Uniti d'America 538
CN - Cina 289
RO - Romania 267
SG - Singapore 244
HK - Hong Kong 227
BR - Brasile 119
RU - Federazione Russa 86
IT - Italia 61
DE - Germania 35
AT - Austria 20
SE - Svezia 20
FI - Finlandia 15
NL - Olanda 11
GB - Regno Unito 6
CA - Canada 5
IN - India 5
IR - Iran 5
UZ - Uzbekistan 4
BD - Bangladesh 3
CZ - Repubblica Ceca 3
PS - Palestinian Territory 3
TR - Turchia 3
AZ - Azerbaigian 2
EC - Ecuador 2
ES - Italia 2
IE - Irlanda 2
IQ - Iraq 2
LT - Lituania 2
PY - Paraguay 2
TN - Tunisia 2
UA - Ucraina 2
VE - Venezuela 2
AR - Argentina 1
AU - Australia 1
BE - Belgio 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CL - Cile 1
CO - Colombia 1
CY - Cipro 1
DO - Repubblica Dominicana 1
EG - Egitto 1
FR - Francia 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
NP - Nepal 1
PA - Panama 1
PK - Pakistan 1
UY - Uruguay 1
VN - Vietnam 1
Totale 2.012
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Città #
Hong Kong 226
Ashburn 223
Shanghai 131
Singapore 87
Washington 34
Moscow 29
Dallas 27
Boardman 17
Guangzhou 16
Milan 14
New York 14
Jiaxing 13
Los Angeles 13
Seattle 13
Cesano Boscone 11
Helsinki 11
Nuremberg 9
São Paulo 9
Amsterdam 8
Munich 8
The Dalles 8
Vienna 8
Lawrence 7
Princeton 7
Xi'an 7
Falkenstein 6
Beijing 5
Presezzo 5
Shenzhen 5
Brescia 4
Reston 4
Wuxi 4
Hangzhou 3
Islington 3
Joinville 3
Lappeenranta 3
Quanzhou 3
Recife 3
Rio de Janeiro 3
Rome 3
Santa Clara 3
Sorocaba 3
Taizhou 3
Anshan 2
Bari 2
Brasília 2
Brno 2
Campina Grande 2
Campos dos Goytacazes 2
Chapecó 2
Chicago 2
Council Bluffs 2
Dublin 2
Florence 2
Fuzhou 2
Goiânia 2
Guarulhos 2
Kunming 2
Landshut 2
London 2
Madrid 2
Oradea 2
Ottawa 2
Quito 2
Redmond 2
Rho 2
Samarkand 2
Scandicci 2
São José do Rio Preto 2
Toronto 2
West Jordan 2
Wuhu 2
Zeme 2
Zhengzhou 2
Alegrete 1
Alfenas 1
Almaty 1
Ankara 1
Aquidabã 1
Assis 1
Asunción 1
Athens 1
Baghdad 1
Baku 1
Balneário Gaivota 1
Bandar Seri Begawan 1
Barbacena 1
Belo Horizonte 1
Bengaluru 1
Beroun 1
Betim 1
Bhiwandi 1
Bishkek 1
Bologna 1
Bom Conselho 1
Boninal 1
Boquira 1
Bragança 1
Bragança Paulista 1
Brussels 1
Totale 1.104
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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) 321
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 44
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 42
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 40
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 38
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 38
Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356 35
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 34
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 33
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 28
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 27
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 27
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 26
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 26
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 26
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 25
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 25
A common molecular basis for three inherited kidney stone diseases 22
Expanding the spectrum of genes responsible for hereditary motor neuropathies 22
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 21
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 21
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 21
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 21
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 21
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 21
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 21
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 21
A new candidate region for the positional cloning of the XLP gene 20
The extracellular matrix affects axonal regeneration in peripheral neuropathies 20
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 20
Myelin Biology 20
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 20
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 20
Vimentin regulates peripheral nerve myelination 20
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 20
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 19
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 19
Frequency of RET mutations in long- and short-segment Hirschsprung disease 19
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 19
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 19
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 18
Myotubularins and associated neuromuscular diseases 18
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 18
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 18
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 18
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 18
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 18
DRG neuron/schwann cells myelinating cocultures 18
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 17
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 17
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 17
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 17
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 17
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 17
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 16
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 16
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 16
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 16
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 16
Foot pad skin biopsy in mouse models of hereditary neuropathy 16
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 16
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 15
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 15
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 15
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 15
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 15
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 15
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 15
Nerve pathology in animal models of neuropathies 14
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 14
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 14
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 14
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 14
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 14
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 14
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 14
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 13
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 13
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 13
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 13
SEVEN EXAMPLES OF EXPANDABLE CLINICAL SPECTRUM OF NEUROMUSCULAR GENES 13
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 13
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 13
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 13
Exclusion of the SCN2B gene as candidate for CMT4B 12
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 12
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 12
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 11
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 11
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 11
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 11
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 10
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 10
Expanding the phenotype of neuromuscular disorders: NGS reveals new genes responsible for recessive motor neuropathies 10
The genetics of anorectal malformations: A complex matter 10
Role of the MTMR2 phospholipid phosphatase in membrane homeostasis during Schwann cell myelination 9
Disruption of MTMR2 in Schwann cells produces CMT4B1-like neuropathy with myelin outfoldings 7
Totale 2.117
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Categoria #
all - tutte 20.147
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 20.147
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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
2022/2023138 15 11 2 0 0 2 1 4 0 97 1 5
2023/2024485 7 33 59 96 51 123 6 37 0 17 10 46
2024/20251.486 131 42 86 53 73 109 539 143 192 91 27 0
Totale 2.117