Detalhe da pesquisa
1.
Complement-membrane regulatory proteins are absent from the nodes of Ranvier in the peripheral nervous system.
J Neuroinflammation
; 20(1): 245, 2023 Oct 24.
Artigo
Inglês
| MEDLINE | ID: mdl-37875972
2.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35471564
3.
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Eur J Neurol
; 29(4): 1174-1180, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34935254
4.
Multi-system neurological disorder associated with a CRYAB variant.
Neurogenetics
; 22(2): 117-125, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33811585
5.
Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD.
Hum Mol Genet
; 28(20): 3369-3390, 2019 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31348492
6.
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
J Hum Genet
; 66(8): 835-840, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33612823
7.
Spatial Intratumoral Heterogeneity Expression of PD-L1 Antigen in Head and Neck Squamous Cell Carcinoma.
Oncology
; 99(7): 464-470, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33789303
8.
Abundance of P-glycoprotein and Breast Cancer Resistance Protein Measured by Targeted Proteomics in Human Epileptogenic Brain Tissue.
Mol Pharm
; 18(6): 2263-2273, 2021 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34008992
9.
Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene.
Int J Mol Sci
; 21(12)2020 Jun 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32630425
10.
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
Muscle Nerve
; 53(4): 564-9, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26296490
11.
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Brain
; 138(Pt 9): 2521-36, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26179919
12.
Minocycline Effectively Protects the Rabbit's Spinal Cord From Aortic Occlusion-Related Ischemia.
J Cardiothorac Vasc Anesth
; 30(2): 282-90, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26853309
13.
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Hum Mutat
; 36(9): 836-41, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26077327
14.
Oncofetal H19 RNA promotes tumor metastasis.
Biochim Biophys Acta
; 1843(7): 1414-26, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24703882
15.
Congenital myopathy is caused by mutation of HACD1.
Hum Mol Genet
; 22(25): 5229-36, 2013 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-23933735
16.
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Hum Genet
; 134(3): 305-14, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25560765
17.
Mortality Caused by Bath Exposure of Zebrafish (Danio rerio) Larvae to Nervous Necrosis Virus Is Limited to the Fourth Day Postfertilization.
Appl Environ Microbiol
; 81(10): 3280-7, 2015 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25746990
18.
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.
Blood
; 121(1): 129-35, 2013 Jan 03.
Artigo
Inglês
| MEDLINE | ID: mdl-23149847
19.
Rare Median Nerve and Digital Nerve Tumor Resection and Distal Nerve Transfers: A Report of 2 Cases.
JBJS Case Connect
; 14(1)2024 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38207087
20.
Induced muscle and liver absence of Gne in postnatal mice does not result in structural or functional muscle impairment.
J Neuromuscul Dis
; 2024 Jun 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38875046