Lista de obras - Alessandra Bolino - Dominio Público Uruguay

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).

artículo científico publicado en 2004

A common molecular basis for three inherited kidney stone diseases

artículo científico publicado en 1996

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

artículo científico publicado en 2019

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

artículo científico publicado en 2015

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.

artículo científico publicado en 2013

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases

artículo científico publicado en 2007

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

artículo científico publicado en 2000

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

artículo científico publicado en 2015

DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination

artículo científico publicado en 2013

DRG Neuron/Schwann Cells Myelinating Cocultures

article

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

artículo científico publicado en 2004

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination

scientific journal article

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

article

Expanding the spectrum of genes responsible for hereditary motor neuropathies

artículo científico publicado en 2019

Foot pad skin biopsy in mouse models of hereditary neuropathy

artículo científico publicado en 2010

Frequency of RET mutations in long- and short-segment Hirschsprung disease

artículo científico publicado en 1997

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies

artículo científico publicado en 2011

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

artículo científico publicado en 2000

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

artículo científico publicado en 2010

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

artículo científico publicado en 1998

Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin

artículo científico publicado en 2009

Isolation and comparative mapping of a human chromosome 20-specific alpha-satellite DNA clone

artículo científico publicado en 1992

Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

artículo científico publicado en 2016

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

article

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

artículo científico publicado en 2014

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

artículo científico publicado en 2005

Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013.

artículo científico publicado en 2013

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

artículo científico publicado en 2002

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

artículo científico publicado en 2003

Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

artículo científico publicado en 2012

Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system

artículo científico publicado en 2007

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

artículo científico publicado en 2003

Myotubularins and associated neuromuscular diseases

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

scientific article published on 31 October 2016

PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

artículo científico publicado en 2016

Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth

artículo científico publicado en 2020

The extracellular matrix affects axonal regeneration in peripheral neuropathies.

artículo científico publicado en 2008

Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies

artículo científico publicado en 2012

Vimentin regulates peripheral nerve myelination

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Lista de obras de Alessandra Bolino

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).

A common molecular basis for three inherited kidney stone diseases

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination

DRG Neuron/Schwann Cells Myelinating Cocultures

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Foot pad skin biopsy in mouse models of hereditary neuropathy

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin

Isolation and comparative mapping of a human chromosome 20-specific alpha-satellite DNA clone

Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013.

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

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

Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

Myotubularins and associated neuromuscular diseases

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth

The extracellular matrix affects axonal regeneration in peripheral neuropathies.

Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies

Vimentin regulates peripheral nerve myelination

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