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1 . Academic Journal
Coenzyme Q10 in the Treatment of Mitochondrial Disease
저자
by
Neergheen, Viruna
;
Chalasani, Annapurna
;
Wainwright, Luke
;
Yubero, Delia
;
Montero, Raquel
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2017 5
Open Access (SciELO)
Scopus
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7 . Academic Journal
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
저자
by
Zouvelou, Vasiliki
;
Yubero, Delia
;
Apostolakopoulou, Loukia
;
Kokkinou, Eleftheria
;
Bilanakis, Manolis
, et al.
소스
In
European Journal of Paediatric Neurology
May 2019 23(3):427-437
Full Text (ScienceDirect)
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Web of Science
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7 . Academic Journal
Pediatric Gaucher disease with intermediate type 2–3 phenotype associated with parkinsonian features and levodopa responsiveness
저자
by
Darling, Alejandra
;
Irún, Pilar
;
Giraldo, Pilar
;
Armstrong, Judith
;
Gort, Laura
, et al.
소스
In
Parkinsonism and Related Disorders
October 2021 91:19-22
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Web of Science
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7 . Academic Journal
Mutations of GEMIN5 are associated with coenzyme Q
10
deficiency: long-term follow-up after treatment
저자
by
Cascajo-Almenara, Marivi V.
;
Juliá-Palacios, Natalia.
;
Urreizti, Roser
;
Sánchez-Cuesta, Ana
;
Fernández-Ayala, Daniel M.
, et al.
소스
European Journal of Human Genetics
. 32(4):426-434
Web of Science
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7 . Periodical
Mutations of GEMIN5 are associated with coenzyme Q10deficiency: long-term follow-up after treatment
저자
by
Cascajo-Almenara, Marivi V.
;
Juliá-Palacios, Natalia.
;
Urreizti, Roser
;
Sánchez-Cuesta, Ana
;
Fernández-Ayala, Daniel M.
, et al.
소스
European Journal of Human Genetics: EJHG; April 2024, Vol. 32 Issue: 4 p426-434, 9p
Web of Science
Scopus
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7 . Academic Journal
Woolly hair in tricho‐dento‐osseous syndrome.
저자
by
Perandones‐González, Héctor
;
Rusiñol‐Batlle, Lluis
;
Bosquez, David
;
Brunet‐Llobet, Lluis
;
Ivars, Marta
, et al.
소스
Pediatric Dermatology
. Nov2023, Vol. 40 Issue 6, p1094-1096. 3p.
Web of Science
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7 . Periodical
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
저자
by
Estévez-Arias, Berta
;
Matalonga, Leslie
;
Martorell, Loreto
;
Codina, Anna
;
Ortez, Carlos
, et al.
소스
Journal of Neuromuscular Diseases; 20240101, Issue: Preprints p1-07, 7p
Web of Science
Scopus
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7 . Academic Journal
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up.
저자
by
Paredes-Fuentes, Abraham J.
;
Oliva, Clara
;
Urreizti, Roser
;
Yubero, Delia
;
Artuch, Rafael
.
소스
Critical Reviews in Clinical Laboratory Sciences
. Jun2023, Vol. 60 Issue 4, p270-289. 20p.
Web of Science
Scopus
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7 . Academic Journal
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
저자
by
Muñoz‐Pujol, Gerard
;
Ortigoza‐Escobar, Juan D.
;
Paredes‐Fuentes, Abraham J.
;
Jou, Cristina
;
Ugarteburu, Olatz
, et al.
소스
Brain Pathology
. May2023, Vol. 33 Issue 3, p1-13. 13p.
Open Access (Wiley)
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7 . Academic Journal
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
저자
by
Nascimento, Andres
;
Bruels, Christine C.
;
Donkervoort, Sandra
;
Foley, A. Reghan
;
Codina, Anna
, et al.
소스
Acta Neuropathologica
. Apr2023, Vol. 145 Issue 4, p479-496. 18p.
Web of Science
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