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Page 1
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Taruscio D, et al. Among authors: landoure g. Front Public Health. 2023 Mar 2;11:1079601. doi: 10.3389/fpubh.2023.1079601. eCollection 2023. Front Public Health. 2023. PMID: 36935719 Free PMC article.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: landoure g. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
The First Case of Huntington's Disease like 2 in Mali, West Africa.
Bocoum A, Ouologuem M, Cissé L, Essop F, Dit Papa Coulibaly S, Botha N, Cissé CAK, Dit Baneye Maiga A, Krause A, Landouré G; H3Africa consortium. Bocoum A, et al. Among authors: landoure g. Tremor Other Hyperkinet Mov (N Y). 2024 Apr 2;14:15. doi: 10.5334/tohm.859. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38617831 Free PMC article.
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
Kotioumbe M, Maiga AB, Bamba S, Cissé L, Diarra S, Diallo S, Yalcouyé A, Kané F, Diallo SH, Coulibaly D, Coulibaly T, Dembélé K, Maiga B, Guinto CO, Landouré G. Kotioumbe M, et al. Among authors: landoure g. Res Sq [Preprint]. 2024 Mar 7:rs.3.rs-4004982. doi: 10.21203/rs.3.rs-4004982/v1. Res Sq. 2024. PMID: 38496429 Free PMC article. Preprint.
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
Cissé L, Yalcouyé A, Touré KO, Coulibaly Y, Maiga AB, Bamba S, Diallo D, Diarra S, Taméga A, Traoré O, Kotioumbé M, Sangaré MA, Ba HO, Simaga A, Koné FI, Samassekou O, Koné A, Guinto CO, Landouré G; H3Africa consortium. Cissé L, et al. Among authors: landoure g. Clin Case Rep. 2024 Feb 26;12(2):e8551. doi: 10.1002/ccr3.8551. eCollection 2024 Feb. Clin Case Rep. 2024. PMID: 38415192 Free PMC article.
Rare Disease Day: Amplifying voices, advocating hope.
Cederroth H, Gahl WA, Landouré G, Zhang S, Bolz-Johnson M. Cederroth H, et al. Among authors: landoure g. Med. 2024 Feb 9;5(2):103-105. doi: 10.1016/j.medj.2024.01.003. Med. 2024. PMID: 38340703
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Yalcouyé A, Rebelo AP, Cissé L, Rives L, Bamba S, Cogan J, Esoh K, Diarra S, Ezell KM, Taméga A, Guinto CO, Dohrn MF, Hamid R, Fischbeck KH, Zuchner S, Landouré G. Yalcouyé A, et al. Among authors: landoure g. Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023. Brain Commun. 2023. PMID: 38074074 Free PMC article.
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G. Yeetong P, et al. Among authors: landoure g. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247
65 results