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1.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Proc Natl Acad Sci U S A
; 118(22)2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34050020
2.
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
Eur Arch Otorhinolaryngol
; 277(12): 3331-3339, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32447495
3.
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Hum Genet
; 137(4): 329-342, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29713870
4.
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.
J Hum Genet
; 63(6): 723-730, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29559740
5.
Anti-cancer effect of metabotropic glutamate receptor 1 inhibition in human glioma U87 cells: involvement of PI3K/Akt/mTOR pathway.
Cell Physiol Biochem
; 35(2): 419-32, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25613036
6.
Downregualtion of dynamin-related protein 1 attenuates glutamate-induced excitotoxicity via regulating mitochondrial function in a calcium dependent manner in HT22 cells.
Biochem Biophys Res Commun
; 443(1): 138-43, 2014 Jan 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24284040
7.
Longitudinal faster anxiety progression of GBA variant carriers in the early Parkinson's disease cohort.
Front Neurosci
; 18: 1353759, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38327847
8.
Impact of GBA variants on longitudinal freezing of gait progression in early Parkinson's disease.
J Neurol
; 270(5): 2756-2764, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36790548
9.
SNCA rs3910105 Is Associated With Development of Rapid Eye Movement Sleep Behavior Disorder in Parkinson's Disease.
Front Neurosci
; 16: 832550, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35310107
10.
[Application of PCR reverse dot blot in non-syndromic deafness gene detection].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
; 34(2): 153-157, 2020 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-32086922
11.
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.
Front Genet
; 10: 639, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31379920
12.
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Gene
; 704: 113-120, 2019 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30974196
13.
Clinical Long-Term Follow-Up Evaluation of Functional Neuronavigation in Adult Cerebral Gliomas.
World Neurosurg
; 119: e262-e271, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30053568
14.
Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.
Int J Pediatr Otorhinolaryngol
; 115: 114-119, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30368370
15.
Nitroproteins in Human Astrocytomas Discovered by Gel Electrophoresis and Tandem Mass Spectrometry.
J Am Soc Mass Spectrom
; 26(12): 2062-76, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26450359
16.
Neuroprotective and anti-apoptotic effects of valproic acid on adult rat cerebral cortex through ERK and Akt signaling pathway at acute phase of traumatic brain injury.
Brain Res
; 1555: 1-9, 2014 Mar 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-24508577
17.
Corrigendum to "Neuroprotective and anti-apoptotic effects of valproic acid on adult rat cerebral cortex through ERK and Akt signaling pathway at acute phase of traumatic brain injury" [Brain Res.1555 (2014, Mar. 25) 1-9].
Brain Res
; 1650: 283, 2016 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27590472
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