Detalhe da pesquisa
1.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
2.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
3.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
4.
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Acta Haematol
; 146(3): 220-225, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774923
5.
Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.
Paediatr Child Health
; 28(2): 97-101, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151924
6.
Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
Hum Mutat
; 43(7): 889-899, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165976
7.
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Hum Mol Genet
; 29(19): 3266-3284, 2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969477
8.
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.
Mol Genet Metab
; 137(4): 445-448, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33775522
9.
Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.
Mol Genet Metab
; 135(1): 56-62, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969640
10.
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Mol Genet Metab
; 137(4): 420-427, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34364746
11.
Psychiatric Manifestations in Patients with Biopterin Defects.
Neuropediatrics
; 53(3): 176-181, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098520
12.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Dev Med Child Neurol
; 64(7): 915-923, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833444
13.
Effects of Pituitary Adenylate Cyclase Activating Polypeptide on Cell Death.
Int J Mol Sci
; 23(9)2022 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563353
14.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213677
15.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
16.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
17.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
18.
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.
Mol Genet Metab
; 130(1): 1-6, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32122747
19.
Correlation Between Salivary, Platelet and Central Serotonin Levels in Children.
Can J Neurol Sci
; 47(2): 214-218, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31806056
20.
Alzheimer's Disease Mouse as a Model of Testis Degeneration.
Int J Mol Sci
; 21(16)2020 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32785075