List of works - Cristina Dominguez-Gonzalez

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

scientific article published on 25 April 2019

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

scientific article published on 27 June 2018

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

scientific article published on 11 May 2016

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

scientific article published on 3 October 2017

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

scientific article published on 2 September 2015

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

scientific article published on 31 January 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

scientific article

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

scientific article published on 8 January 2018

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

scientific article published on 22 April 2022

Late onset distal myopathy: A new telethoninopathy

scientific article published on 13 November 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

scientific article published on 01 September 2016

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

scientific article published on 16 July 2016

Orthostatic tremor: an enigmatic condition

scientific article published on April 1, 2012

Paucisymptomatic hyperCKemia in patients with obstructive sleep apnea/hypopnea syndrome

scientific article published in February 2017

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

scientific article published on 12 May 2022

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

scientific article

Resting state functional MRI reveals abnormal network connectivity in orthostatic tremor

scientific article published on July 2016

SOD1 mutations in adult-onset distal spinal muscular atrophy

scientific article published on 03 July 2020

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

scientific article published on 30 June 2016

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

scientific article published on 05 November 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

scientific article published on 01 March 2010

[Hemiparkinsonism secondary to sphenoid wing meningioma]

scientific article published on 01 September 2009

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

scientific article published on 23 June 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]

scientific article published on 01 July 2007

List of works by Cristina Dominguez-Gonzalez