IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 464
AS - Asia 278
EU - Europa 173
OC - Oceania 1
SA - Sud America 1
Totale 917
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Nazione #
US - Stati Uniti d'America 463
CN - Cina 180
SG - Singapore 92
RU - Federazione Russa 82
IT - Italia 33
SE - Svezia 20
DE - Germania 11
NL - Olanda 7
GB - Regno Unito 5
FI - Finlandia 4
CZ - Repubblica Ceca 2
ES - Italia 2
HK - Hong Kong 2
IE - Irlanda 2
IN - India 2
RO - Romania 2
AU - Australia 1
BE - Belgio 1
BR - Brasile 1
CA - Canada 1
CY - Cipro 1
FR - Francia 1
GR - Grecia 1
TR - Turchia 1
Totale 917
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Città #
Ashburn 220
Singapore 67
Shanghai 53
Washington 30
Moscow 28
Dallas 27
Boardman 17
Guangzhou 16
New York 14
Jiaxing 13
Seattle 13
Los Angeles 12
Milan 10
Lawrence 7
Munich 7
Princeton 7
Xi'an 6
Amsterdam 5
Beijing 5
Presezzo 5
Shenzhen 5
Helsinki 3
Islington 3
Quanzhou 3
Taizhou 3
Wuxi 3
Brno 2
Dublin 2
Florence 2
Fuzhou 2
Landshut 2
Madrid 2
Oradea 2
Redmond 2
Rho 2
Santa Clara 2
West Jordan 2
Wuhu 2
Zeme 2
Anshan 1
Athens 1
Bengaluru 1
Brussels 1
Buffalo 1
Changsha 1
Clifton 1
Edgerton 1
Foshan 1
Hefei 1
Hong Kong 1
Jinhua 1
Lappeenranta 1
Legnano 1
London 1
Melbourne 1
New Haven 1
Paphos 1
Paris 1
Pavia 1
Pune 1
Rome 1
San Giuliano Terme 1
San Severino Marche 1
São Paulo 1
Temecula 1
Wuhan 1
Yeovil 1
Zhenjiang 1
Totale 637
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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) 40
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 26
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 25
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 24
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 23
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 21
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 21
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 20
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 20
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 17
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 17
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 16
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 15
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 15
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 15
DRG neuron/schwann cells myelinating cocultures 15
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 14
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 14
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 13
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 13
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 13
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 13
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 13
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 13
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 12
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 12
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 12
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 12
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 12
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 12
A new candidate region for the positional cloning of the XLP gene 11
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 11
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 11
Myotubularins and associated neuromuscular diseases 11
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 11
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 11
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 11
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 11
A common molecular basis for three inherited kidney stone diseases 11
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 11
Expanding the spectrum of genes responsible for hereditary motor neuropathies 11
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 11
The extracellular matrix affects axonal regeneration in peripheral neuropathies 10
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 10
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 10
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 9
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 9
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 9
Frequency of RET mutations in long- and short-segment Hirschsprung disease 9
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 9
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 8
Myelin Biology 8
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 8
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 8
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 8
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 8
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 8
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 8
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 8
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 8
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 8
Vimentin regulates peripheral nerve myelination 8
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 8
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 8
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 8
Nerve pathology in animal models of neuropathies 7
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 7
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 7
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 7
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 7
Exclusion of the SCN2B gene as candidate for CMT4B 7
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 7
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 7
Foot pad skin biopsy in mouse models of hereditary neuropathy 7
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 7
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 7
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 6
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 6
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 6
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 6
Role of the MTMR2 phospholipid phosphatase in membrane homeostasis during Schwann cell myelination 6
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 6
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 6
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 6
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 6
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 5
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 5
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 5
The genetics of anorectal malformations: A complex matter 5
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 5
Disruption of MTMR2 in Schwann cells produces CMT4B1-like neuropathy with myelin outfoldings 5
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 4
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 4
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 3
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 3
Expanding the phenotype of neuromuscular disorders: NGS reveals new genes responsible for recessive motor neuropathies 2
SEVEN EXAMPLES OF EXPANDABLE CLINICAL SPECTRUM OF NEUROMUSCULAR GENES 2
Totale 1.014
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Categoria #
all - tutte 14.904
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 14.904
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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
2024/2025383 131 42 86 53 71 0 0 0 0 0 0 0
Totale 1.014