Detalhe da pesquisa
1.
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Am J Med Genet A
; 194(5): e63532, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192009
2.
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study.
J Inherit Metab Dis
; 2024 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38897600
3.
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Neurobiol Dis
; 181: 106108, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37003407
4.
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Mol Genet Metab
; 138(2): 106983, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709536
5.
Diagnosis and management of hepatic encephalopathy: The French recommendations.
Liver Int
; 43(4): 750-762, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36625084
6.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Hum Mol Genet
; 29(6): 980-989, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011699
7.
Diagnostic approach in adult-onset neurometabolic diseases.
J Neurol Neurosurg Psychiatry
; 93(4): 413-421, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140137
8.
Natural History of Adult Patients with GM2 Gangliosidosis.
Ann Neurol
; 87(4): 609-617, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31995250
9.
Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.
J Neurol Neurosurg Psychiatry
; 2020 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087424
10.
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.
J Inherit Metab Dis
; 43(5): 1060-1069, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324281
11.
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
J Inherit Metab Dis
; 42(5): 803-808, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887539
12.
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
Rapid Commun Mass Spectrom
; 31(11): 951-963, 2017 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28370531
13.
The Susd2 protein regulates neurite growth and excitatory synaptic density in hippocampal cultures.
Mol Cell Neurosci
; 65: 82-91, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724483
14.
Brain White Matter Lesions and Presumed Crohn's Disease: Did You Consider MNGIE?
Can J Neurol Sci
; 47(4): 572-575, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32122424
15.
Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.
J Neurol Neurosurg Psychiatry
; 90(7): 836-838, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389777
16.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Front Genet
; 15: 1352006, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38348452
17.
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Bone Marrow Transplant
; 58(3): 295-302, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36494569
18.
Prognostic value of electroencephalographic paroxysms in post-anoxic coma: A new regularity EEG-based score.
Neurophysiol Clin
; 52(3): 223-231, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35490145
19.
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Orphanet J Rare Dis
; 17(1): 434, 2022 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36514115
20.
Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.
JAMA Neurol
; 78(4): 483-490, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427863