Cristina Domínguez-González Selected Research

Mitochondrial DNA (mtDNA)

4/2024	Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.
4/2024	Clinical and Genetic Analysis of Patients With TK2 Deficiency.
12/2023	Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
1/2023	High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
7/2022	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
6/2022	Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
1/2022	Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
12/2021	Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
1/2020	A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.
1/2019	Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

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Cristina Domínguez-González Research Topics

Disease

11	Muscular Diseases (Myopathy) 04/2024 - 01/2017
5	Mitochondrial Diseases (Mitochondrial Disease) 04/2024 - 01/2019
5	Mitochondrial Myopathies (Mitochondrial Myopathy) 04/2024 - 11/2015
4	Respiratory Insufficiency (Respiratory Failure) 04/2024 - 01/2018
4	MELAS Syndrome (Syndrome, MELAS) 12/2023 - 01/2020
3	Ophthalmoplegia (External Ophthalmoplegia) 04/2024 - 01/2017
2	Muscle Weakness 04/2024 - 10/2023
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2023 - 12/2022
2	Glycogen Storage Disease Type II (Pompe's Disease) 12/2022 - 01/2020
2	Guillain-Barre Syndrome 11/2021 - 11/2020
2	Bethlem myopathy 01/2020 - 04/2019
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2020 - 11/2018
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 04/2024
1	Deglutition Disorders (Dysphagia) 04/2024
1	Intellectual Disability (Idiocy) 10/2023
1	Movement Disorders (Movement Disorder) 10/2023
1	Fatigue 03/2023
1	Chronic Fatigue Syndrome (Myalgic Encephalomyelitis) 03/2023
1	Lactic Acidosis 01/2023
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2023
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2023
1	Stroke (Strokes) 01/2023
1	Dermatitis 10/2022
1	Glycogen Storage Disease (Glycogenosis) 10/2022
1	Contracture 04/2022
1	Glycogen Storage Disease Type V (McArdle's Disease) 04/2022
1	Atrophy 01/2022
1	Frontotemporal Dementia (Semantic Dementia) 01/2022
1	Osteitis Deformans (Paget's Disease of Bone) 01/2022
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 12/2021
1	Neuroblastoma 11/2021
1	Myotonia 11/2021
1	Myotonic Dystrophy (Dystrophia Myotonica) 11/2021
1	Rare Diseases (Rare Disease) 10/2021
1	Rhabdomyolysis 03/2021
1	Scleroatonic muscular dystrophy 01/2020
1	Sarcoglycanopathies 11/2018
1	Femoral Fractures (Femoral Fracture) 01/2018
1	Polyneuropathies (Polyneuropathy) 12/2017

Drug/Important Bio-Agent (IBA)

12	Mitochondrial DNA (mtDNA)IBA 04/2024 - 01/2018
4	thymidine kinase 2IBA 04/2024 - 03/2021
4	Glutamine (L-Glutamine)FDA Link 12/2023 - 06/2022
4	Glutamic Acid (Glutamate)FDA Link 12/2023 - 06/2022
3	Lactic Acid (Lactate)FDA LinkGeneric 12/2023 - 06/2022
3	Biomarkers (Surrogate Marker)IBA 03/2023 - 11/2020
3	Proteins (Proteins, Gene)FDA Link 04/2022 - 01/2021
2	Creatine Kinase (Creatine Phosphokinase)IBA 10/2023 - 04/2019
2	Growth Differentiation Factor 15IBA 03/2023 - 06/2021
2	Myosins (Myosin)IBA 01/2023 - 01/2017
2	Protein Isoforms (Isoforms)IBA 04/2022 - 06/2021
1	dystrophin-related protein 2IBA 04/2024
1	DeoxycytidineIBA 04/2024
1	ThymidineIBA 04/2024
1	CreatineIBA 12/2023
1	Messenger RNA (mRNA)IBA 01/2023
1	Transaminases (Aminotransferases)IBA 01/2023
1	Lactate Dehydrogenase 5IBA 10/2022
1	Alanine (L-Alanine)FDA Link 06/2022
1	Branched-Chain Amino AcidsIBA 06/2022
1	ProteomeIBA 04/2022
1	Glycogen Phosphorylase (Phosphorylase, Glycogen)IBA 04/2022
1	TOR Serine-Threonine KinasesIBA 01/2022
1	Valosin Containing ProteinIBA 01/2022
1	GangliosidesIBA 11/2021
1	AutoantibodiesIBA 11/2021
1	AntibodiesIBA 11/2021
1	Anti-Idiotypic AntibodiesIBA 11/2021
1	Mexiletine (Mexitil)FDA LinkGeneric 11/2021
1	fibroblast growth factor 21IBA 06/2021
1	GelsolinIBA 06/2021
1	ConnectinIBA 01/2021
1	muskIBA 06/2020
1	alpha-Glucosidases (Acid Maltase)IBA 01/2020
1	CollagenIBA 01/2020
1	Collagen Type VIIBA 04/2019
1	Thymidine KinaseIBA 01/2019
1	Sarcoglycans (beta Sarcoglycan)IBA 11/2018
1	Apoptosis Inducing FactorIBA 12/2017
1	Telbivudine FDA Link 11/2015

Therapy/Procedure

2	Artificial Respiration (Mechanical Ventilation) 04/2024 - 04/2024
2	Therapeutics 12/2022 - 01/2019
1	Mechanical Ventilators (Ventilator) 01/2023
1	Activities of Daily Living (ADL) 01/2018