Detalles de la búsqueda
1.
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
J Hum Genet;
69(5): 187-196, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38355957
2.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet;
60(7): 644-654, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36446582
3.
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Clin Genet;
103(2): 236-241, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36250766
4.
Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
Liver Int;
43(8): 1822-1836, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37312667
5.
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics;
54(1): 31-36, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36126956
6.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Int J Mol Sci;
23(8)2022 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35457051
7.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Neurogenetics;
22(4): 343-346, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34296368
8.
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
Am J Med Genet A;
185(2): 591-595, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33305890
9.
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
Brain;
145(10): e99-e102, 2022 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35915960
10.
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Muscle Nerve;
66(4): E13-E15, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35833674
11.
SOD1 mutations in adult-onset distal spinal muscular atrophy.
Eur J Neurol;
27(11): e75-e76, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32619288
12.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Pediatr Neurol;
155: 8-17, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38569228
13.
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
Genes (Basel);
14(7)2023 07 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37510397
14.
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
J Clin Med;
12(9)2023 May 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37176748
15.
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord;
33(12): 983-987, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38016875
16.
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.
J Pediatr Genet;
12(3): 254-257, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37575653
17.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Genes (Basel);
13(9)2022 09 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36140775
18.
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Eur J Med Genet;
65(8): 104539, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35705147
19.
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
J Alzheimers Dis;
84(1): 73-78, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34459404
20.
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Amyotroph Lateral Scler Frontotemporal Degener;
22(7-8): 552-560, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34009082