Detalhe da pesquisa
1.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
2.
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Brain
; 144(4): 1197-1213, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889941
3.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499166
4.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Am J Hum Genet
; 98(4): 597-614, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040688
5.
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Hum Mutat
; 39(12): 1995-2007, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178502
6.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
7.
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Brain
; 144(7): e64, 2021 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037698
8.
Identification of cellular targets of a series of boron heterocycles using TIPA II-A sensitive target identification platform.
Bioorg Med Chem
; 24(15): 3267-75, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27301675
9.
Synthesis, characterization, and antibacterial activity of structurally complex 2-acylated 2,3,1-benzodiazaborines and related compounds.
Chem Biodivers
; 11(9): 1381-97, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25238079
10.
Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease: A Genetic Case Report.
JACC Case Rep
; 6: 101644, 2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348978
11.
Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.
Sci Rep
; 11(1): 3148, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542258
12.
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.
PLoS One
; 15(3): e0230566, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32208444
13.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(5): 473-481, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367058
14.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(6): 640, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457452
15.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
; 51(4): 649-658, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926972
16.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
; 51(5): 920, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028356
17.
Zebrafish: A Pharmacogenetic Model for Anesthesia.
Methods Enzymol
; 602: 189-209, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588029
18.
Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.
Front Mol Neurosci
; 9: 55, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27458342