Suchergebnisse - "Nascimento, Andrés"

PubPharm (7)

1

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

enthalten in: Acta neuropathologica | 2023

von Nascimento, A. | Bruels, C. | Donkervoort, S. | +31

2

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

enthalten in: Acta neuropathologica | 2020

von García-Cazorla, �. | Verdura, E. | Juliá-Palacios, N. | +35

3

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Töpf, A. | Johnson, K. | Bates, A. | +97

4

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

enthalten in: Scientific reports | 2019

von Milev, M. | Stanga, D. | Schänzer, A. | +16

ErratumIn: Sci Rep. 2020 Nov 10;10(1):19770. - PMID 33173071

5

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

enthalten in: EMBO molecular medicine | 2018

von Thompson, K. | Mai, N. | Oláhová, M. | +22

6

Retrospective natural history of thymidine kinase 2 deficiency

enthalten in: Journal of medical genetics | 2018

von Garone, C. | Taylor, R. | Nascimento, A. | +40

7

Ataluren treatment of patients with nonsense mutation dystrophinopathy

enthalten in: Muscle & nerve | 2014

von Bushby, K. | Finkel, R. | Wong, B. | +132

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