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1 . Academic Journal
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
저자
by
Martinez-Marin, Rafael Jenaro
;
Reyes-Leiva, David
;
Nascimento, Andrés
;
Muelas, Nuria
;
Dominguez-González, C.
, et al.
소스
In
Neuromuscular Disorders
January 2024 34:1-8
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7 . Academic Journal
Miopatías metabólicas, mitocondriales y tóxicas
저자
by
Domínguez-González, C.
;
Martín-Casanueva, M.A.
.
소스
In
Medicine - Programa de Formación Médica Continuada acreditado
April 2019 12(76):4497-4506
Full Text (ScienceDirect)
Scopus
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4 . Academic Journal
Protocolo diagnóstico de las mialgias
저자
by
Domínguez-González, C.
.
소스
In
Medicine - Programa de Formación Médica Continuada acreditado
April 2019 12(76):4521-4524
Full Text (ScienceDirect)
Scopus
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3 . Academic Journal
P.61 Imaging Mass Cytometry reveals new clues to understand the pathogenesis of Becker muscular dystrophy
저자
by
Piñol, P.
;
Verdú-Díaz, J.
;
Lawless, C.
;
Fernández-Simón, E.
;
McDonald, D.
, et al.
소스
In
Neuromuscular Disorders
October 2022 32 Supplement 1:S67-S68
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7 . Academic Journal
IMAGING: EP.333 Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
저자
by
Dominguez-Gonzalez, C.
;
Fernandez-Torron, R.
;
Moore, U.
;
Velez, B.
;
Perez, J. Alonso
, et al.
소스
In
Neuromuscular Disorders
October 2021 31 Supplement 1:S151-S151
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7 . Academic Journal
IMAGING: EP.332 Patients with McArdle disease have increased fat replacement of paraspinal muscles on MRI: a European multicenter study
저자
by
Løkken, N.
;
Revsbech, K.
;
Jacobsen, L.
;
Martinuzzi, A.
;
Toscano, A.
, et al.
소스
In
Neuromuscular Disorders
October 2021 31 Supplement 1:S151-S151
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7 . Academic Journal
MITOCHONDRIAL DISEASES: EP.212 Preferential diaphragmatic involvement in TK2 deficiency: an autopsy case study
저자
by
Domínguez-González, C.
;
Laine-Menéndez, S.
;
Delmiro, A.
;
García-Consuegra, I.
;
Fernández-de la Torre, M.
, et al.
소스
In
Neuromuscular Disorders
October 2021 31 Supplement 1:S114-S114
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7 . Academic Journal
POMPE DISEASE: EP.199 Spanish Pompe registry: analysis of the first 100 patients included
저자
by
Reyes-Leiva, D.
;
Nascimento, A.
;
Muelas, N.
;
Domínguez-González, C.
;
Paradas, C.
, et al.
소스
In
Neuromuscular Disorders
October 2021 31 Supplement 1:S110-S110
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7 . Academic Journal
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.39 Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
저자
by
de la Hoz, C. Fuenmayor-Fernández
;
Hernández-Laín, A.
;
López, A. Arteche
;
Voth, A. Hernández
;
Olivé, M.
, et al.
소스
In
Neuromuscular Disorders
October 2021 31 Supplement 1:S61-S61
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7 . Academic Journal
CLINICAL RESEARCH: O.8 Genotype-phenotype correlations in valosin containing protein disease: an international multicentric audit, the VCP International Study Group
저자
by
Schiava, M.
;
Ikenaga, C.
;
Stojkovic, T.
;
Caballero, M.
;
Nishino, I.
, et al.
소스
In
Neuromuscular Disorders
October 2021 31 Supplement 1:S49-S50
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