Detalhe da pesquisa
1.
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Neurobiol Dis
; : 106537, 2024 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772452
2.
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Mov Disord
; 39(1): 164-172, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994247
3.
GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
J Peripher Nerv Syst
; 27(2): 113-119, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383424
4.
Neuropsychiatric and socio-cultural aspects in a Malian family with spinocerebellar ataxia.
Ann Med Psychol (Paris)
; 178(3): 278-282, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32431322
5.
Hereditary spastic paraplegia type 35 in a family from Mali.
Am J Med Genet A
; 179(7): 1122-1125, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087769
6.
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
Res Sq
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496429
7.
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
Clin Case Rep
; 12(2): e8551, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38415192
8.
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Brain Commun
; 5(5): fcad227, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38074074
9.
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Acta Neurol Belg
; 123(6): 2155-2165, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36396882
10.
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Mol Genet Genomic Med
; 10(7): e1995, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698919
11.
Clinical and Genetic Aspects of Huntington's Disease in the Malian Population.
J Huntingtons Dis
; 11(2): 195-201, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311712
12.
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.
Clin Case Rep
; 9(5): e04065, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34084490
13.
A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
Mol Genet Genomic Med
; 7(7): e00782, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173493
14.
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
Ann Clin Transl Neurol
; 4(4): 272-275, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28382308
15.
A novel variant in the spatacsin gene causing SPG11 in a Malian family.
J Neurol Sci
; 411: 116675, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32007754
16.
Fahr's syndrome with hyperparathyroidism revealed by seizures and proximal weakness.
eNeurologicalSci
; 15: 100192, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31080899