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PubPharm (21)
1
Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency : A case report
enthalten in:
Mitochondrion
| 2024
von
Bermejo-Guerrero, L.
|
Hernández-Voth, A.
|
Serrano-Lorenzo, P.
| +4
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2
Clinical and Genetic Analysis of Patients With TK2 Deficiency
enthalten in:
Neurology. Genetics
| 2024
von
Ceballos, F.
|
Serrano-Lorenzo, P.
|
Bermejo-Guerrero, L.
| +17
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3
The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages
enthalten in:
iScience
| 2023
von
Gobelli, D.
|
Serrano-Lorenzo, P.
|
Esteban-Amo, M.
| +7
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4
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
enthalten in:
Journal of clinical medicine
| 2023
von
Bermejo-Guerrero, L.
|
de Fuenmayor-Fernández de la Hoz, C.
|
Guerrero-Molina, M.
| +9
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5
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
enthalten in:
International journal of molecular sciences
| 2023
von
Amate-García, G.
|
Ballesta-Martínez, M.
|
Serrano-Lorenzo, P.
| +10
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6
Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions
enthalten in:
PloS one
| 2023
von
Serrano-Lorenzo, P.
|
Gobelli, D.
|
Garrido-Moraga, R.
| +6
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7
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
enthalten in:
Genes
| 2022
von
Serrano-Lorenzo, P.
|
Rabasa, M.
|
Esteban, J.
| +10
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8
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome : The role of nerve pathology in defining a demyelinating neuropathy
enthalten in:
Neuropathology and applied neurobiology
| 2022
von
Argente-Escrig, H.
|
Vílchez, J.
|
Frasquet, M.
| +14
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9
Identification of Potential Muscle Biomarkers in McArdle Disease : Insights from Muscle Proteome Analysis
enthalten in:
International journal of molecular sciences
| 2022
von
García-Consuegra, I.
|
Asensio-Peña, S.
|
Garrido-Moraga, R.
| +10
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10
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome : The role of nerve pathology in defining a demyelinating neuropathy
enthalten in:
Neuropathology and Applied Neurobiology
| 2022
von
Argente‐Escrig, H.
|
Vílchez, J.
|
Frasquet, M.
| +14
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McArdle disease
3
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3
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3
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skeletal muscle
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33X04XA5AT
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8558G7RUTR
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9005-79-2
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9014-25-9
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Apoptosis Regulatory Proteins
1
Biological sciences
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Erscheinungszeitraum
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2020-
5
2010-2019
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