Detalhe da pesquisa
1.
Molecular tug-of-war: Plant immune recognition of herbivory.
Plant Cell
; 34(5): 1497-1513, 2022 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35026025
2.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38380699
3.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38452608
4.
Metagenomics of the Gut Microbiome in Parkinson's Disease: Prodromal Changes.
Ann Neurol
; 94(3): 486-501, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37314861
5.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38499966
6.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
J Med Genet
; 60(10): 965-973, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37197784
7.
Signatures of plant defense response specificity mediated by herbivore-associated molecular patterns in legumes.
Plant J
; 110(5): 1255-1270, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35315556
8.
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Hum Mol Genet
; 29(24): 3859-3871, 2021 02 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33043365
9.
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Hum Genet
; 142(12): 1755-1776, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37962671
10.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Genet Med
; 25(12): 100971, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37675773
11.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37348148
12.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35616651
13.
Association between Acid-Lowering Agents, Metformin, and Vitamin B12 among Boston-Area Puerto Ricans.
J Nutr
; 153(8): 2380-2388, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37302714
14.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37452721
15.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
J Inherit Metab Dis
; 2023 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37932875
16.
The epidemiology of mild cognitive impairment, Alzheimer's disease and related dementia in U.S. veterans.
Alzheimers Dement
; 19(9): 3977-3984, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37114952
17.
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.
Neuroradiology
; 64(11): 2179-2190, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35662359
18.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Dev Med Child Neurol
; 64(7): 915-923, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35833444
19.
GRIN database: A unified and manually curated repertoire of GRIN variants.
Hum Mutat
; 42(1): 8-18, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33252190
20.
Activated gut-homing CD8+ T cells for coeliac disease diagnosis on a gluten-free diet.
BMC Med
; 19(1): 237, 2021 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34610833