Detalhe da pesquisa
1.
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
J Allergy Clin Immunol
; 153(5): 1392-1405, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280573
2.
Predicting non-response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities.
Dev Med Child Neurol
; 66(7): 919-930, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140924
3.
Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.
Eur J Pediatr
; 183(1): 83-93, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924348
4.
Reframing selection as a learning experience: Insights from a residency selection assessment.
Med Teach
; : 1-8, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335926
5.
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
Anal Chem
; 95(26): 9787-9796, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341384
6.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947102
7.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
8.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
J Inherit Metab Dis
; 2023 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455357
9.
Long-term outcomes for females with early-onset dystrophinopathy.
Dev Med Child Neurol
; 65(8): 1093-1104, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562406
10.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci
; 79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593933
11.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
12.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506430
13.
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
Mov Disord
; 36(12): 2951-2957, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515380
14.
Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation.
Muscle Nerve
; 64(6): 701-709, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453345
15.
Dysarthria in children and adults with ataxia telangiectasia.
Dev Med Child Neurol
; 63(4): 450-456, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33521952
16.
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profiles.
J Inherit Metab Dis
; 43(5): 1112-1120, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32406085
17.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
J Inherit Metab Dis
; 43(6): 1265-1278, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557630
18.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
J Med Genet
; 56(5): 308-316, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819809
19.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058447
20.
Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.
Neuropediatrics
; 50(2): 89-95, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609437