Detalhe da pesquisa
1.
Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy.
Mol Ther
; 32(1): 44-58, 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37952085
2.
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.
Hum Genet
; 142(11): 1587-1601, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758910
3.
Dystrophin-Deficient Muscular Dystrophy in Two Male Juvenile Brittanys.
J Am Anim Hosp Assoc
; 58(6): 292-296, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315862
4.
Glossitis in an older non-corgi dog: Diagnosis and long-term follow-up.
Can Vet J
; 63(8): 825-829, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35919473
5.
Polyneuropathy in Young Siberian Huskies Caused by Degenerative and Inflammatory Diseases.
Vet Pathol
; 57(5): 666-674, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32578500
6.
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds.
Hum Genet
; 138(5): 509-513, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847549
7.
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.
Hum Genet
; 138(5): 515-524, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715562
8.
A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.
BMC Genomics
; 18(1): 662, 2017 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28841859
9.
An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.
PLoS Genet
; 10(10): e1004635, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25275565
10.
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
Neurobiol Dis
; 86: 75-85, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26607784
11.
Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle.
Hum Mol Genet
; 23(22): 5879-92, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24943590
12.
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Hum Mol Genet
; 23(1): 209-25, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975679
13.
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.
Mamm Genome
; 27(9-10): 495-502, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27215641
14.
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.
PLoS Genet
; 9(6): e1003430, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754947
15.
Total laryngectomy for management of chronic aspiration pneumonia in a myopathic dog.
Can Vet J
; 57(7): 761-6, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27429466
16.
Sarcocystis caninum and Sarcocystis svanai n. spp. (Apicomplexa: Sarcocystidae) Associated with Severe Myositis and Hepatitis in the Domestic Dog (Canis familiaris).
J Eukaryot Microbiol
; 62(3): 307-17, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256157
17.
COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.
Anim Genet
; 46(6): 711-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26374066
18.
Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis.
J Neurosci Res
; 92(4): 531-41, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375814
19.
SIK1 is a class II HDAC kinase that promotes survival of skeletal myocytes.
Nat Med
; 13(5): 597-603, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17468767
20.
Recurrent gastric dilatation and intestinal dysmotility possibly resulting from autonomic neuropathy in a Great Dane.
J Am Anim Hosp Assoc
; 50(3): 221-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659724