Found: 18
Select item for more details and to access through your institution.
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1455467
- By:
- Publication type:
- Article
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
- Published in:
- Neurogenetics, 2024, v. 25, n. 4, p. 487, doi. 10.1007/s10048-024-00761-z
- By:
- Publication type:
- Article
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1455467
- By:
- Publication type:
- Article
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1455467
- By:
- Publication type:
- Article
ASPECTS CLINIQUES, PARACLINIQUES ET GENETIQUES DES ATAXIES SPINOCEREBELLEUSES AUTOSOMIQUES RECESSIVES AU MALI.
- Published in:
- Mali Médical, 2022, v. 37, n. 4, p. 61
- By:
- Publication type:
- Article
EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT "G".
- Published in:
- Mali Médical, 2022, v. 37, n. 2, p. 17
- By:
- Publication type:
- Article
UN CAS RARE DE MALADIE DE HORTON SANS SYNDROME INFLAMMATOIRE DANS LE SERVICE DE NEUROLOGIE DU CHU DU POINT G, BAMAKO, MALI.
- Published in:
- Mali Médical, 2021, v. 36, n. 4, p. 79
- By:
- Publication type:
- Article
FACTEURS ASSOCIÉS AUX TROUBLES MENTAUX DANS LE SERVICE DE PSYCHIATRIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT G AU MALI.
- Published in:
- Mali Médical, 2021, v. 36, n. 1, p. 52
- By:
- Publication type:
- Article
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A rare case of thyrotoxic periodic paralysis revealing Graves' disease in a young Malian.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
An unusual case of Dyke–Davidoff–Masson syndrome revealed by status epilepticus in a Malian patient.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4065
- By:
- Publication type:
- Article
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad227
- By:
- Publication type:
- Article
A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.782
- By:
- Publication type:
- Article
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 164, doi. 10.1002/mds.29654
- By:
- Publication type:
- Article
Current profile of Charcot‐Marie‐Tooth disease in Africa: A systematic review.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 100, doi. 10.1111/jns.12489
- By:
- Publication type:
- Article
GJB1 variants in Charcot‐Marie‐Tooth disease X‐linked type 1 in Mali.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 113, doi. 10.1111/jns.12486
- By:
- Publication type:
- Article