Lista de obras -

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

scientific article published on 01 January 2019

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

artículo científico publicado en 2007

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

artículo científico publicado en 2006

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes ⬇️

artículo científico publicado el 4 de marzo de 2011

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

scientific article published on 11 February 2020

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 mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

artículo científico publicado en 2018

A new mutation in GJC2 associated with subclinical leukodystrophy

artículo científico publicado en 2014

A novel AARS mutation in a family with dominant myeloneuropathy

artículo científico publicado en 2015

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

scientific article published on 21 December 2018

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

artículo científico publicado en 2009

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

artículo científico publicado en 2010

A recessive Trim2 mutation causes an axonal neuropathy in mice

artículo científico publicado en 2020

Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis

artículo científico publicado en 2013

Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions

artículo científico publicado en 2015

Acute demyelination disrupts the molecular organization of peripheral nervous system nodes

artículo científico publicado en 2004

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

artículo científico publicado en 2005

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

artículo científico publicado en 2020

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

scientific article published on 01 April 2019

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

artículo científico publicado en 2010

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

artículo científico publicado en 2020

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

artículo científico publicado en 2005

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

artículo científico publicado en 2017

Caspr2 autoantibodies target multiple epitopes.

artículo científico publicado en 2015

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

artículo científico publicado en 2002

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy

artículo científico publicado en 2016

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

artículo científico publicado en 2002

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

artículo científico publicado en 2009

Connexins are critical for normal myelination in the CNS.

artículo científico publicado en 2003

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

artículo científico publicado en 2017

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct

artículo científico publicado en 2008

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

artículo científico publicado en 2011

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

artículo científico publicado en 2016

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

artículo científico publicado en 2015

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells

artículo científico publicado en 2002

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

artículo científico publicado en 2002

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26 ⬇️

artículo científico publicado el 30 de octubre de 2010

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

artículo científico publicado en 2010

ErbB2 signaling in Schwann cells is mostly dispensable for maintenance of myelinated peripheral nerves and proliferation of adult Schwann cells after injury.

artículo científico publicado en 2006

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

scientific article published on 16 June 2013

Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom

artículo científico publicado en 2004

Gap junctions couple astrocytes and oligodendrocytes

artículo científico publicado en 2008

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

artículo científico publicado en 2006

Genetic dysmyelination alters the molecular architecture of the nodal region

article

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

scientific article published on 28 March 2018

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

artículo científico publicado en 2004

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

artículo científico publicado en 2015

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

artículo científico publicado en 2009

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants

artículo científico publicado en 2008

Identification of genes that are downregulated in the absence of the POU domain transcription factor pou3f1 (Oct-6, Tst-1, SCIP) in sciatic nerve

scientific journal article

Identification of novel cell-adhesion molecules in peripheral nerves using a signal-sequence trap

artículo científico publicado en 2006

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

artículo científico publicado en 2016

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

artículo científico publicado en 2011

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

scientific article published on 31 July 2020

KCNQ2 is a nodal K+ channel.

artículo científico publicado en 2004

Kv3.1b is a novel component of CNS nodes

scientific journal article

Kv7.2 regulates the function of peripheral sensory neurons

artículo científico publicado en 2014

Kv7.5 is the primary Kv7 subunit expressed in C‐fibers ⬇️

artículo científico publicado el 15 de junio de 2012

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

artículo científico publicado en 2017

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

artículo científico publicado en 2007

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

artículo científico publicado en 2010

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

article

Molecular mechanisms of inherited demyelinating neuropathies

artículo científico publicado en 2008

Molecular organization of the nodal region is not altered in spontaneously diabetic BB‐Wistar rats

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

artículo científico publicado en 2018

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E

artículo científico publicado en 2018

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

artículo científico publicado en 2018

National Institute of Neurological Disorders and Stroke (NINDS): advances in understanding and treating neuropathy, 24-25 October 2006; Bethesda, Maryland.

artículo científico publicado en 2008

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

artículo científico publicado en 2021

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

artículo científico publicado en 2017

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations

artículo científico publicado en 2006

Notch1 control of oligodendrocyte differentiation in the spinal cord

scientific journal article

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

artículo científico publicado en 2017

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

artículo científico publicado en 2007

Paranodal permeability in "myelin mutants".

artículo científico publicado en 2011

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

artículo científico publicado en 2017

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

artículo científico publicado en 2005

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

artículo científico publicado en 2017

Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A

artículo científico publicado en 2002

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

scientific journal article

Recent progress on the molecular organization of myelinated axons

artículo científico publicado en 2002

Recurrent duplication-driven transposition of DNA during hominoid evolution

artículo científico publicado en 2006

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

artículo científico publicado en 2011

Schwann cell caveolin-1 expression increases during myelination and decreases after axotomy.

artículo científico publicado en 2002

Subtype-specific therapy for autoimmune neuropathies?

artículo científico publicado en 2015

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

artículo científico publicado en 2006

TGFbeta1 modulates the phenotype of Schwann cells at the transcriptional level

artículo científico publicado en 2002

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

artículo científico publicado en 2016

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The effects of a dominant connexin32 mutant in myelinating Schwann cells

artículo científico publicado en 2006

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

scientific article published on 01 February 2005

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

artículo científico publicado en 2013

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

artículo científico publicado en 2007

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

artículo científico publicado en 2004

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

artículo científico publicado en 2018

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

artículo científico publicado en 2019

X-linked Charcot-Marie-Tooth disease

scientific article published on December 2012

Lista de obras de

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes ⬇️

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

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

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

A new mutation in GJC2 associated with subclinical leukodystrophy

A novel AARS mutation in a family with dominant myeloneuropathy

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

A recessive Trim2 mutation causes an axonal neuropathy in mice

Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis

Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions

Acute demyelination disrupts the molecular organization of peripheral nervous system nodes

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Caspr2 autoantibodies target multiple epitopes.

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

Connexins are critical for normal myelination in the CNS.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26 ⬇️

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

ErbB2 signaling in Schwann cells is mostly dispensable for maintenance of myelinated peripheral nerves and proliferation of adult Schwann cells after injury.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom

Gap junctions couple astrocytes and oligodendrocytes

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

Genetic dysmyelination alters the molecular architecture of the nodal region

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants

Identification of genes that are downregulated in the absence of the POU domain transcription factor pou3f1 (Oct-6, Tst-1, SCIP) in sciatic nerve

Identification of novel cell-adhesion molecules in peripheral nerves using a signal-sequence trap

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

KCNQ2 is a nodal K+ channel.

Kv3.1b is a novel component of CNS nodes

Kv7.2 regulates the function of peripheral sensory neurons

Kv7.5 is the primary Kv7 subunit expressed in C‐fibers ⬇️

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Molecular mechanisms of inherited demyelinating neuropathies

Molecular organization of the nodal region is not altered in spontaneously diabetic BB‐Wistar rats

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

National Institute of Neurological Disorders and Stroke (NINDS): advances in understanding and treating neuropathy, 24-25 October 2006; Bethesda, Maryland.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations

Notch1 control of oligodendrocyte differentiation in the spinal cord

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

Paranodal permeability in "myelin mutants".

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.