C. Domínguez‐González

发表

Resting state functional MRI reveals abnormal network connectivity in orthostatic tremor

J. Benito-León, E. Louis, J. Alvarez-Linera, 2016, Medicine.

Astasia, asymmetrical asterixis and pretectal syndrome in thalamo-mesencephalic hemorrhage

E. Pablo-Fernández, A. Villarejo, C. Domínguez-González, 2009, Clinical Neurology and Neurosurgery.

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

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2015, Journal of the Neurological Sciences.

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

Miguel Ángel Martín, C. Jiménez-Mallebrera, A. Hernández-Laín, 2021, Molecular genetics and metabolism reports.

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

J. Arenas, Miguel Ángel Martín, E. Rivas, 2019, Orphanet Journal of Rare Diseases.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

H. True, G. Ravenscroft, N. Laing, 2022, bioRxiv.

Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies

K. Engelstad, M. Hirano, C. Domínguez-González, 2022, Journal of neuromuscular diseases.

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

S. Kalko, K. Engelstad, C. Paradas, 2019, Annals of neurology.

Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

J. Arenas, D. Lora, J. García-García, 2022, Neuromuscular Disorders.

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2021, Journal of clinical medicine.

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Miguel Ángel Martín, J. A. Cabezas, C. Paradas, 2021, Neuromuscular Disorders.

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Miguel Ángel Martín, C. Paradas, M. Madruga-Garrido, 2021, Orphanet Journal of Rare Diseases.

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

Miguel Ángel Martín, A. Delmiro, I. García‐Consuegra, 2021, International journal of molecular sciences.

Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

Miguel Ángel Martín, C. Domínguez-González, V. Villena Garrido, 2020, BMJ open respiratory research.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

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

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2020, Journal of Medical Genetics.

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

I. Ara, A. Lucia, I. Rodríguez-Gómez, 2018, Medicine and science in sports and exercise.

Increased dNTP pools rescue mtDNA depletion in human POLG‐deficient fibroblasts

Miguel Ángel Martín, E. García-Arumí, A. Lombès, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

E. Gallardo, A. Hernández-Laín, D. Cantero, 2018, Journal of the Neurological Sciences.

Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene

A. Hernández-Laín, M. Olivé, C. Domínguez-González, 2022, Muscle & nerve.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1

A. Hernández-Laín, D. Cantero, Ó. Toldos, 2019, Neuromuscular Disorders.

Late onset distal myopathy: A new telethoninopathy

A. Hernández-Laín, M. Olivé, C. Domínguez-González, 2019, Neuromuscular Disorders.

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

A. Hernández-Laín, M. Olivé, A. Fernández-Marmiesse, 2016, Neuromuscular Disorders.

V. Straub, A. Topf, N. Wright, 2020, Neuromuscular Disorders.

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

A. Lleó, I. Rojas-Marcos, R. Rojas-García, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

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

M. D. de Castro, P. Sánchez-Pintos, M. Couce, 2022, Journal of clinical medicine.

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

A. Fernández-Marmiesse, C. Domínguez-González, C. Rodríguez-López, 2019, Journal of Neurology.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

C. Bönnemann, D. Cuadras, C. Ortez, 2021, Neurology.

A new muscle glycogen storage disease associated with glycogenin‐1 deficiency

S. Dimauro, E. Malfatti, N. Romero, 2014, Annals of neurology.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Muscle MRI in McArdle Disease

Miguel Ángel Martín, J. Vissing, F. Granata, 2022, Neurology.

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

L. Waddell, N. Laing, F. Evesson, 2020, Neuropathology and applied neurobiology.

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

C. Ortez, E. Rivas, A. Hernández-Laín, 2022, Journal of Medical Genetics.

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2022, Genes.

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

P. Navas, E. Ruiz-Pesini, E. Trevisson, 2016, Mitochondrion.

Vertebral Hemangioma Causing Spinal Cord Compression

E. de Pablo-Fernández, C. Domínguez‐González, 2010, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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

C. Marco-Marín, C. Espinós, C. Domínguez-González, 2017, neurogenetics.

Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum

J. Vílchez, N. Muelas, P. Martí, 2020, Journal of Neurology.

Autoantibody screening in Guillain–Barré syndrome

I. Rojas-Marcos, R. Rojas-García, I. Illa, 2021, medRxiv.

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

J. Benito-León, E. Louis, Á. Sánchez-Ferro, 2016, Journal of the Neurological Sciences.

Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders

J. Arenas, Miguel Ángel Martín, D. Lora, 2021, International journal of molecular sciences.

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

Miguel Ángel Martín, D. Lora, P. Serrano-Lorenzo, 2023, Journal of clinical medicine.

[Hemiparkinsonism secondary to sphenoid wing meningioma].

C. Domínguez‐González, A. Ramos‐González, M. Amosa Delgado, 2009, Neurologia.

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

J. Arenas, Miguel Ángel Martín, A. Hernández-Laín, 2016, Muscle & nerve.

Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.

J. Palomino-Doza, R. Salguero-Bodes, C. Domínguez-González, 2019, Circulation. Genomic and precision medicine.

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

A. Santalla, G. Nogales-Gadea, J. Arenas, 2022, International journal of molecular sciences.

A novel mutation in the mitochondrial MTND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.

E. Ruiz-Pesini, J. Arenas, Miguel Ángel Martín, 2019, Mitochondrion.

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

Sruthi S. Nair, K. Claeys, E. Malfatti, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

C. Ortez, A. López de Munain, S. Pascual-Pascual, 2023, Journal of Medical Genetics.

Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction

J. Arenas, Miguel Ángel Martín, Sandra López-Calcerrada, 2020, Cells.

BNIP3 is involved in muscle fiber atrophy in Late-Onset Pompe Disease patients.

B. Schoser, E. Rivas, C. Paradas, 2022, The American journal of pathology.

Survey on the management of Pompe disease in routine clinical practice in Spain

J. Díaz-Manera, C. Domínguez-González, A. Rivera-Gallego, 2022, Orphanet Journal of Rare Diseases.

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

Miguel Ángel Martín, A. Hernández-Laín, C. Domínguez-González, 2023, Journal of clinical medicine.

CMT4J, parkinsonism and a new FIG4 mutation.

I. Posada, C. Domínguez‐González, 2020, Parkinsonism & related disorders.

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2022, Journal of Neurology.

Reply: High‐dose oral glutamine can reduce cerebrospinal fluid glutamate in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes without a beneficial clinical or cerebral tissue effect

C. Domínguez‐González, María Paz Guerrero‐Molina, Jesús González de la Aleja, 2023, European Journal of Neurology.

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

J. Esteban-Pérez, A. Hernández-Laín, C. Domínguez-González, 2017, Muscle & nerve.

High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2023 .

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

A. Hernández-Laín, M. Olivé, C. P. de Fuenmayor-Fernández de la Hoz, 2019, Brain : a journal of neurology.

Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification.

J. Palomino-Doza, R. Salguero-Bodes, A. Ruiz-Curiel, 2021, Heart, lung & circulation.

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

A. López de Munain, I. Illa, J. Díaz-Manera, 2020 .

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of neurology.