IRIS
BOLINO, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 417
AS - Asia 80
EU - Europa 59
Totale 556
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Nazione #
US - Stati Uniti d'America 417
CN - Cina 42
SG - Singapore 32
IT - Italia 21
SE - Svezia 20
DE - Germania 4
CZ - Repubblica Ceca 2
ES - Italia 2
FI - Finlandia 2
HK - Hong Kong 2
IE - Irlanda 2
IN - India 2
RO - Romania 2
RU - Federazione Russa 2
CY - Cipro 1
GB - Regno Unito 1
NL - Olanda 1
TR - Turchia 1
Totale 556
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Città #
Ashburn 219
Shanghai 39
Washington 30
Singapore 18
Boardman 17
New York 14
Seattle 13
Los Angeles 11
Lawrence 7
Princeton 7
Milan 5
Presezzo 5
Brno 2
Dublin 2
Landshut 2
Madrid 2
Oradea 2
Redmond 2
Rho 2
West Jordan 2
Zeme 2
Bengaluru 1
Buffalo 1
Helsinki 1
Hong Kong 1
Lappeenranta 1
Legnano 1
Paphos 1
Pavia 1
Pune 1
Rome 1
San Giuliano Terme 1
Santa Clara 1
Temecula 1
Yeovil 1
Totale 417
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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) 26
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy 20
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 20
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 19
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 18
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases 15
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) 15
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION 13
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 13
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 12
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 11
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY 11
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION 11
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' 11
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 11
DRG neuron/schwann cells myelinating cocultures 11
Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013 10
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 10
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES 10
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE 9
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy 9
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY 9
A common molecular basis for three inherited kidney stone diseases 9
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family 9
LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY 8
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth 8
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 8
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination 8
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE 8
A new candidate region for the positional cloning of the XLP gene 7
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 7
Myotubularins and associated neuromuscular diseases 7
PI(3,5)P-2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms 7
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis 7
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE 7
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system 7
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS 7
Mutation of the small HSP27/HSPB1 causes CMT neuropathy with abnormal neurofilament assembly 7
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 7
Nerve pathology in animal models of neuropathies 6
MODULATION OF NEUREGULIN 1 TYPE III PATHWAY TO TREAT HEREDITARY DEMYELINATING NEUROPATHIES 6
The extracellular matrix affects axonal regeneration in peripheral neuropathies 6
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin 6
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 6
Role of the extracellular matrix in regenerating and non-regenerating axonal neuropathies 6
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination 6
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies 6
Exclusion of the SCN2B gene as candidate for CMT4B 6
ISOLATION OF A HUMAN CHROMOSOME-22-SPECIFIC ALPHA SATELLITE CLONE 6
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 6
Vimentin regulates peripheral nerve myelination 6
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies 6
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 6
Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1 6
Myelin Biology 5
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene 5
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases 5
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy 5
Linkage analysis in informative families for the identification of disease genes in the post-genoma era 5
CYTOSKELETON AND PERIPHERAL NERVE MYELINATION: A NOVEL ROLE FOR VIMENTIN 5
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) 4
Phospholipid metabolism, the regulation of membrane trafficking and Charcot-Marie-Tooth neuropathies 4
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice 4
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 4
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy 4
DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination 4
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION 4
Foot pad skin biopsy in mouse models of hereditary neuropathy 4
The exctracellular matrix affects axonal regeneration in peripheral neuropathies 4
Expanding the spectrum of genes responsible for hereditary motor neuropathies 4
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies 3
TRAFFICKING THROUGH THE ENDO-LYSOSOMAL AXIS REGULATES MYELINATION AND REPAIR IN THE PERIPHERAL NERVOUS SYSTEM 3
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 3
KIF13B MOTOR PROTEIN REGULATES MYELINATION IN THE PERIPHERAL AND CENTRAL NERVOUS SYSTEM 3
MTMR2 phospholipid phosphatase and membrane trafficking in Schwann cells 3
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 3
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 3
Role of the MTMR2 phospholipid phosphatase in membrane homeostasis during Schwann cell myelination 3
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings 3
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 3
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of {GM}2 gangliosidosis 3
The genetics of anorectal malformations: A complex matter 3
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology 3
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B 3
Frequency of RET mutations in long- and short-segment Hirschsprung disease 3
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 3
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets 3
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor 3
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 2
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing 2
Disruption of MTMR2 in Schwann cells produces CMT4B1-like neuropathy with myelin outfoldings 2
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold 2
DLG1 IS A NEGATIVE REGULATOR OF SCHWANN CELL MYELINATION 2
DEFINING GENOTYPE-PHENOTYPE CORRELATIONS IN THE CMT NEUROPATHIES 1
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene 1
Totale 648
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Categoria #
all - tutte 9.732
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 9.732
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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
2024/202517 17 0 0 0 0 0 0 0 0 0 0 0
Totale 648