Lista de obras - Montse Olive - Dominio Público Uruguay

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

artículo científico publicado en 2008

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

artículo científico publicado en 2019

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine

artículo científico publicado en 2018

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

scientific article published on 11 December 2013

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

artículo científico publicado en 2004

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

artículo científico publicado en 2004

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

artículo científico publicado en 2004

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

scientific article published on 27 December 2019

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

artículo científico publicado en 2019

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

artículo científico publicado en 2014

Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

scientific article published on 01 December 2019

Amoeboid microglial response following X-ray-induced apoptosis in the neonatal rat brain

artículo científico publicado en 1995

Bcl-2 and Bax protein expression in human myopathies

scientific article published on 01 March 1999

CREB-1 and CREB-2 immunoreactivity in the rat brain

artículo científico publicado en 1996

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

artículo científico publicado en 2011

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

artículo científico publicado en 2001

Cutaneous Neoplasms in Myotonic Dystrophy Type 1.

artículo científico publicado en 2017

Cylindrical spirals in two families: Clinical and genetic investigations

artículo científico publicado en 2019

Desmin Is Oxidized and Nitrated in Affected Muscles in Myotilinopathies and Desminopathies

artículo científico publicado en 2007

Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

artículo científico publicado en 2004

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

artículo científico publicado en 2017

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

artículo científico publicado en 2006

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress

artículo científico publicado en 2018

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

artículo científico publicado en 2013

Distinct muscle imaging patterns in myofibrillar myopathies.

artículo científico publicado en 2008

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.

artículo científico publicado en 2011

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

artículo científico publicado en 2010

Evidence of internucleosomal DNA fragmentation and identification of dying cells in X-ray-induced cell death in the developing brain

artículo científico publicado en 1995

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

artículo científico publicado en 2013

Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies

scientific article published on 11 October 2007

Expression of myogenic regulatory factors (MRFs) in human neuromuscular disorders

artículo científico publicado en 1997

Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases

scientific article published on 01 April 2003

Filamin C-related myopathies: pathology and mechanisms.

artículo científico publicado en 2012

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

artículo científico publicado en 2009

Hereditary spastic paraparesis with dementia, amyotrophy and peripheral neuropathy. A neuropathological study

scientific article published on 01 June 1995

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

artículo científico publicado en 2017

Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase

artículo científico publicado en 2020

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

scientific article published on 03 December 2008

Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy.

artículo científico publicado en 2016

Intermediate filament diseases: desminopathy.

artículo científico publicado en 2008

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

artículo científico publicado en 2011

Late onset distal myopathy: A new telethoninopathy

artículo científico publicado en 2018

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

article

Molecular characterization of congenital myasthenic syndromes in Spain.

artículo científico publicado en 2017

Molecular pathology of myofibrillar myopathies.

artículo científico publicado en 2008

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study

artículo científico publicado en 2019

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

scientific article published on 08 December 2018

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

artículo científico publicado en 2018

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

artículo científico publicado en 2015

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

artículo científico publicado en 2019

Myofibrillar myopathies: new developments.

artículo científico publicado en 2013

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

scientific article published on 27 March 2019

Myotilinopathy: refining the clinical and myopathological phenotype

artículo científico publicado en 2005

Nemaline myopathy type 6: clinical and myopathological features

artículo científico publicado en 2010

New aspects of myofibrillar myopathies.

artículo científico publicado en 2016

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

artículo científico publicado en 2015

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

artículo científico publicado en 2015

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

artículo científico publicado en 2016

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

scientific article published on 13 August 2018

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

artículo científico publicado en 2016

Overexpression of semicarbazide-sensitive amine oxidase in human myopathies

artículo científico publicado en 2004

Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation

artículo científico publicado en 2007

Parvalbumin immunocytochemistry and calcium deposition in muscle fiber necrosis and subsequent regeneration following intramuscular injection of metoclopramide

artículo científico publicado en 1994

Parvalbumin immunohistochemistry in denervated skeletal muscle

scientific article published on 01 October 1994

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

artículo científico publicado en 2007

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

scientific article published on 05 April 2007

Postnatal development of parvalbumin immunoreactivity in striated muscles of the rat.

artículo científico publicado en 1994

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

artículo científico publicado en 2012

Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis.

artículo científico publicado en 2004

Radiosensitive populations and recovery in X-ray-induced apoptosis in the developing cerebellum

artículo científico publicado en 1993

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

artículo científico publicado en 2018

Selective c-Jun overexpression is associated with ionizing radiation-induced apoptosis in the developing cerebellum of the rat

artículo científico publicado en 1996

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

scientific article published on September 2013

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy

artículo científico publicado en 2003

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

scientific article published on 26 June 2019

Strong c-Jun immunoreactivity is associated with apoptotic cell death in human tumors of the central nervous system

scientific article published on 01 August 1996

TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies

artículo científico publicado en 2009

Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy

artículo científico publicado en 2007

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

artículo científico publicado en 2016

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

scientific article published on 11 May 2020

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

artículo científico publicado en 2015

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

artículo científico publicado en 2011

Transforming growth factor-alpha (TGF-alpha) and epidermal growth factor-receptor (EGF-R) immunoreactivity in normal and pathologic brain.

artículo científico publicado en 1996

Transforming growth factor-α immunoreactivity in the developing and adult brain ⬇️

artículo científico publicado el 1 de mayo de 1995

Varón de 24 años con intolerancia al esfuerzo

artículo científico publicado en 2005

[Neuropathy by n-hexanes: a generalized disorder of the intermediate filaments]

artículo científico publicado en 1998

model of myosin myopathy rescued by overexpression of a TRIM-protein family member

artículo científico publicado en 2018

Lista de obras de Montse Olive

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

Amoeboid microglial response following X-ray-induced apoptosis in the neonatal rat brain

Bcl-2 and Bax protein expression in human myopathies

CREB-1 and CREB-2 immunoreactivity in the rat brain

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Cutaneous Neoplasms in Myotonic Dystrophy Type 1.

Cylindrical spirals in two families: Clinical and genetic investigations

Desmin Is Oxidized and Nitrated in Affected Muscles in Myotilinopathies and Desminopathies

Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

Distinct muscle imaging patterns in myofibrillar myopathies.

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

Evidence of internucleosomal DNA fragmentation and identification of dying cells in X-ray-induced cell death in the developing brain

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies

Expression of myogenic regulatory factors (MRFs) in human neuromuscular disorders

Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases

Filamin C-related myopathies: pathology and mechanisms.

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

Hereditary spastic paraparesis with dementia, amyotrophy and peripheral neuropathy. A neuropathological study

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy.

Intermediate filament diseases: desminopathy.

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

Late onset distal myopathy: A new telethoninopathy

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Molecular characterization of congenital myasthenic syndromes in Spain.

Molecular pathology of myofibrillar myopathies.

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Myofibrillar myopathies: new developments.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Myotilinopathy: refining the clinical and myopathological phenotype

Nemaline myopathy type 6: clinical and myopathological features

New aspects of myofibrillar myopathies.

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Overexpression of semicarbazide-sensitive amine oxidase in human myopathies

Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation

Parvalbumin immunocytochemistry and calcium deposition in muscle fiber necrosis and subsequent regeneration following intramuscular injection of metoclopramide

Parvalbumin immunohistochemistry in denervated skeletal muscle

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

Postnatal development of parvalbumin immunoreactivity in striated muscles of the rat.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis.

Radiosensitive populations and recovery in X-ray-induced apoptosis in the developing cerebellum

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Selective c-Jun overexpression is associated with ionizing radiation-induced apoptosis in the developing cerebellum of the rat

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

Strong c-Jun immunoreactivity is associated with apoptotic cell death in human tumors of the central nervous system

TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies

Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy