Detalles de la búsqueda
1.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
J Inherit Metab Dis;
46(6): 1029-1042, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37718653
2.
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Int J Mol Sci;
24(15)2023 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37569695
3.
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Orphanet J Rare Dis;
18(1): 188, 2023 Jul 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37443087
4.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain Pathol;
33(3): e13134, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36450274
5.
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Int J Mol Sci;
23(20)2022 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36293220
6.
HACE1 builds molecular crosstalks between rare diseases and (more) common disorders.
Clin Transl Med;
12(6): e922, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35678127
7.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med;
14(1): 38, 2022 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35379322
8.
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
J Clin Med;
11(6)2022 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35330074
9.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat;
43(3): 403-419, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34989426
10.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Orphanet J Rare Dis;
16(1): 195, 2021 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-33931066
11.
Leigh syndrome associated with TRMU gene mutations.
Mol Genet Metab Rep;
26: 100690, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33365252
12.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis;
44(1): 148-163, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32681750
13.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis;
44(2): 401-414, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32677093
14.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab;
131(3): 349-357, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33153867
15.
Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
Mitochondrion;
55: 78-84, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32949790
16.
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response.
J Clin Med;
9(4)2020 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32225089
17.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
J Inherit Metab Dis;
43(2): 297-308, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31339582
18.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Hum Mutat;
40(10): 1700-1712, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31058414
19.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
J Clin Med;
8(1)2019 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30634555
20.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Clin Genet;
94(6): 592-593, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30427553