Detalhe da pesquisa
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
2.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
3.
The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release.
Cereb Cortex
; 29(10): 4263-4276, 2019 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30541023
4.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
PLoS Genet
; 11(8): e1005454, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284655
5.
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.
J Am Soc Nephrol
; 28(1): 209-217, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27335120
6.
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.
J Am Soc Nephrol
; 28(5): 1507-1520, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27932475
7.
Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures.
EMBO J
; 32(16): 2275-86, 2013 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23881097
8.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24035193
9.
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
PLoS Genet
; 9(12): e1003988, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367272
10.
Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones.
Anal Biochem
; 474: 35-7, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25615417
11.
The murine Clâ»/HCOâ»3 exchanger Ae3 (Slc4a3) is not required for acid-base balance but is involved in magnesium handling by the kidney.
Cell Physiol Biochem
; 34(5): 1566-77, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402438
12.
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
J Clin Invest
; 131(9)2021 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33755596
13.
Activation of polymorphonuclear neutrophils in patients with impaired left ventricular function.
Free Radic Biol Med
; 43(8): 1189-96, 2007 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17854714
14.
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Nat Genet
; 45(11): 1399-404, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036948
15.
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.
EMBO Mol Med
; 4(10): 1057-71, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22933323
16.
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Nat Genet
; 41(11): 1179-81, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19838196
17.
Molecular and functional characterization of Kv4.2 and KChIP2 expressed in the porcine left ventricle.
Pflugers Arch
; 454(2): 195-207, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17242957
18.
NKX6 transcription factor activity is required for alpha- and beta-cell development in the pancreas.
Development
; 132(13): 3139-49, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15944193