Lista de obras -

A Pilot, Phase II, Randomized, Open-Label Clinical Trial Comparing the Neurotoxicity of Three Dose Regimens of Nab-Paclitaxel to That of Solvent-Based Paclitaxel as the First-Line Treatment for Patients with Human Epidermal Growth Factor Receptor Typ

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 milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.

artículo científico publicado en 2016

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

artículo científico publicado en 2017

A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.

artículo científico publicado en 2015

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

artículo científico publicado en 2019

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

scientific article published on 11 March 2020

Cognitive and neuropsychiatric features of orthostatic tremor: A case-control comparison

artículo científico publicado en 2015

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

scientific article published in 2022

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

artículo científico publicado en 2018

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

artículo científico publicado en 2022

Late onset distal myopathy: A new telethoninopathy

artículo científico publicado en 2018

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

scientific article published on 05 September 2018

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

scientific article published on 08 December 2018

Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Orthostatic tremor: an enigmatic condition

artículo científico publicado el 1 de abril de 2012

Paucisymptomatic hyperCKemia in patients with obstructive sleep apnea/hypopnea syndrome

artículo científico publicado en 2017

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

artículo científico publicado en 2022

Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS).

artículo científico publicado en 2013

Resting state functional MRI reveals abnormal network connectivity in orthostatic tremor

artículo científico publicado en 2016

SOD1 mutations in adult-onset distal spinal muscular atrophy

artículo científico publicado en 2020

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

artículo científico publicado en 2016

Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients

artículo científico publicado en 2020

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

scientific article published on 23 July 2019

Vertebral hemangioma causing spinal cord compression

artículo científico publicado en 2010

[Hemiparkinsonism secondary to sphenoid wing meningioma]

artículo científico publicado en 2009

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

artículo científico publicado en 2010

[Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene]

scientific article published on 01 November 2010

[Sensory ganglionopathy as a manifestation of celiac disease]

artículo científico publicado en 2007

Lista de obras de

A Pilot, Phase II, Randomized, Open-Label Clinical Trial Comparing the Neurotoxicity of Three Dose Regimens of Nab-Paclitaxel to That of Solvent-Based Paclitaxel as the First-Line Treatment for Patients with Human Epidermal Growth Factor Receptor Typ

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

A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

Cognitive and neuropsychiatric features of orthostatic tremor: A case-control comparison

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

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

Late onset distal myopathy: A new telethoninopathy

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

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

Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2

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

Orthostatic tremor: an enigmatic condition

Paucisymptomatic hyperCKemia in patients with obstructive sleep apnea/hypopnea syndrome

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS).

Resting state functional MRI reveals abnormal network connectivity in orthostatic tremor

SOD1 mutations in adult-onset distal spinal muscular atrophy

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

Vertebral hemangioma causing spinal cord compression

[Hemiparkinsonism secondary to sphenoid wing meningioma]

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

[Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene]

[Sensory ganglionopathy as a manifestation of celiac disease]