Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
2.
Expression, purification and characterization of two Clostridium acetobutylicum flavodoxins: potential electron transfer partners for CYP152A2.
Biochim Biophys Acta
; 1814(1): 257-64, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20601217
3.
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models.
Front Cell Dev Biol
; 8: 544043, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072739
4.
Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.
Sci Rep
; 10(1): 8391, 2020 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439941
5.
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Parkinsonism Relat Disord
; 74: 6-11, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32268254
6.
Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.
Stem Cell Res
; 34: 101378, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30605842
7.
mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5.
Mol Ther Methods Clin Dev
; 15: 359-370, 2019 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828178
8.
Natural History of Squamous Intraepithelial Lesions in Pregnancy and Mode of Delivery.
Anticancer Res
; 38(4): 2439-2442, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599374
9.
Inactivation of the Mouse L-Proline Transporter PROT Alters Glutamatergic Synapse Biochemistry and Perturbs Behaviors Required to Respond to Environmental Changes.
Front Mol Neurosci
; 11: 279, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177871
10.
Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.
Stem Cell Res
; 29: 166-169, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679845
11.
GlyT1 determines the glycinergic phenotype of amacrine cells in the mouse retina.
Brain Struct Funct
; 223(7): 3251-3266, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808289
12.
Re-evaluation of neuronal P2X7 expression using novel mouse models and a P2X7-specific nanobody.
Elife
; 72018 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30074479
13.
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).
Stem Cell Res
; 17(2): 426-429, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879217
14.
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.
Stem Cell Res
; 17(3): 485-488, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789400
15.
[Achilles heel of COPD]. / Atemnot und gehunfähigkeit.
Praxis (Bern 1994)
; 102(14): 873-6, 2013 Jul 03.
Artigo
em Alemão
| MEDLINE | ID: mdl-23823687
16.
Lectin binding patterns and carbohydrate mediation of sperm binding to llama oviductal cells in vitro.
Anim Reprod Sci
; 118(2-4): 344-53, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19682806
17.
Cytochrome P450 monooxygenase from Clostridium acetobutylicum: a new alpha-fatty acid hydroxylase.
Biochem Biophys Res Commun
; 362(1): 114-119, 2007 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-17706598