Lista de obras -

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

artículo científico publicado en 2012

Anterior interosseous mononeuropathy associated with HEV infection

artículo científico publicado en 2017

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

artículo científico publicado en 2016

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

artículo científico publicado en 2016

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

artículo científico publicado en 2019

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

scientific article published on 28 August 2009

Congenital myopathies: an update

scientific article published on 02 October 2019

Core-rod myopathy caused by mutations in the nebulin gene

article

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

scientific article published on 01 October 2010

Detection of myositis-specific antibodies.

artículo científico publicado en 2018

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

artículo científico publicado en 2016

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

artículo científico publicado en 2013

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

artículo científico publicado en 2013

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

artículo científico publicado en 2009

Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?

artículo científico publicado en 2015

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

artículo científico publicado en 2019

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

artículo científico publicado en 2017

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

artículo científico publicado en 2005

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

scientific article published in 2022

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

artículo científico publicado en 2015

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

scientific article published on 19 June 2019

Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres

artículo científico publicado en 2018

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

artículo científico publicado en 2017

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

artículo científico publicado en 2019

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

artículo científico publicado en 2010

Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment

scientific article published on 14 July 2018

Limb girdle muscular dystrophy due to mutations in POMT2.

artículo científico publicado en 2017

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

artículo científico publicado en 2006

Malignant hyperthermia: still an issue for neuromuscular diseases?

scientific article published on 01 October 2018

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

scientific article published on 14 June 2019

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

artículo científico publicado en 2017

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

artículo científico publicado en 2006

Mitochondrial abnormalities in myofibrillar myopathies

artículo científico publicado en 2014

Motor cortex metabolite alterations in amyotrophic lateral sclerosis assessed in vivo using edited and non-edited magnetic resonance spectroscopy

artículo científico publicado en 2019

Myofibrillar myopathies.

artículo científico

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

scientific article published on 27 March 2019

Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI

scientific article published on 21 November 2012

Myositis as a neuromuscular complication of immune checkpoint inhibitors

scientific article published on 29 January 2020

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

artículo científico publicado en 2017

Novel FHL1 mutation in a family with reducing body myopathy

artículo científico publicado en 2012

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

artículo científico publicado en 2013

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

artículo científico publicado en 2015

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

artículo científico publicado en 2020

PRRT2 mutations: exploring the phenotypical boundaries.

artículo científico publicado en 2013

Papillary thyroid carcinoma presenting with severe Guillain-Barré syndrome

scientific article published on 20 December 2019

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

artículo científico publicado en 2014

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

artículo científico publicado el 1 de abril de 2011

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

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

artículo científico publicado en 2019

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

artículo científico publicado en 2017

Serum neurofilament heavy chains as early marker of motor neuron degeneration

scientific article published on 13 September 2019

Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis

artículo científico publicado en 2018

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

artículo científico publicado en 2017

The proximal medial sural nerve biopsy model: a standardised and reproducible baseline clinical model for the translational evaluation of bioengineered nerve guides

artículo científico publicado en 2014

Towards a functional pathology of hereditary neuropathies

artículo científico publicado en 2016

Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome

artículo científico publicado en 2016

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

artículo científico publicado en 2015

Two-component collagen nerve guides support axonal regeneration in the rat peripheral nerve injury model

artículo científico publicado en 2016

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

artículo científico publicado en 2016

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

artículo científico publicado en 2022

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

artículo científico publicado en 2014

Whole-body muscle Magnetic Resonance Imaging in patients with muscle symptoms: incidental findings and outcomes

artículo científico publicado en 2020

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

artículo científico publicado en 2016

Lista de obras de

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

Anterior interosseous mononeuropathy associated with HEV infection

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Congenital myopathies: an update

Core-rod myopathy caused by mutations in the nebulin gene

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

Detection of myositis-specific antibodies.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

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

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment

Limb girdle muscular dystrophy due to mutations in POMT2.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Malignant hyperthermia: still an issue for neuromuscular diseases?

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Mitochondrial abnormalities in myofibrillar myopathies

Motor cortex metabolite alterations in amyotrophic lateral sclerosis assessed in vivo using edited and non-edited magnetic resonance spectroscopy

Myofibrillar myopathies.

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

Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI

Myositis as a neuromuscular complication of immune checkpoint inhibitors

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

Novel FHL1 mutation in a family with reducing body myopathy

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

PRRT2 mutations: exploring the phenotypical boundaries.

Papillary thyroid carcinoma presenting with severe Guillain-Barré syndrome

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

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

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

Serum neurofilament heavy chains as early marker of motor neuron degeneration

Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

The proximal medial sural nerve biopsy model: a standardised and reproducible baseline clinical model for the translational evaluation of bioengineered nerve guides

Towards a functional pathology of hereditary neuropathies

Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Two-component collagen nerve guides support axonal regeneration in the rat peripheral nerve injury model

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Whole-body muscle Magnetic Resonance Imaging in patients with muscle symptoms: incidental findings and outcomes

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC