Suchergebnisse - "Domínguez-González, Cristina"

PubPharm (125)

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

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

3

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease

enthalten in: Neurology | 2024

von Sivera, R. | Pelayo-Negro, A. | Jericó, I. | +15

4

Correction to : Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

enthalten in: Journal of neurology | 2024

von Esteller, D. | Schiava, M. | Verdú-Díaz, J. | +63

ErratumFor: J Neurol. 2023 Dec;270(12):5849-5865. - PMID 37603075

5

Magnetic resonance spectroscopy in MELAS syndrome : correlation with CSF and plasma metabolite levels and change after glutamine supplementation

enthalten in: Neuroradiology | 2024

von Guerrero-Molina, M. | Bernabeu-Sanz, �. | Ramos-González, A. | +6

6

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

enthalten in: Journal of neurology | 2024

von Esteller, D. | Schiava, M. | Verdú-Díaz, J. | +63

7

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

enthalten in: Scientific reports | 2024

von Piñol-Jurado, P. | Verdú-Díaz, J. | Fernández-Simón, E. | +21

8

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

enthalten in: Journal of neurology | 2024

von de Fuenmayor-Fernández de la Hoz, C. | Lupo, V. | Bermejo-Guerrero, L. | +7

9

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation

enthalten in: Neuroradiology | 2023

von Guerrero-Molina, M. | Bernabeu-Sanz, �. | Ramos-González, A. | +6

10

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

enthalten in: Neuromuscular disorders : NMD | 2023

von Bermejo-Guerrero, L. | de Fuenmayor Fernández-de la Hoz, C. | González-Quereda, L. | +8

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