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Page 1
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Angelini C, et al. Among authors: rouanet m. Mov Disord. 2023 Nov;38(11):2103-2115. doi: 10.1002/mds.29576. Epub 2023 Aug 21. Mov Disord. 2023. PMID: 37605305
An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C. Trimouille A, et al. Among authors: rouanet m. Clin Neurol Neurosurg. 2018 Mar;166:1-3. doi: 10.1016/j.clineuro.2018.01.013. Epub 2018 Jan 30. Clin Neurol Neurosurg. 2018. PMID: 29353221 No abstract available.
Acute Brachial Radiculoplexopathy and Giant Cell Arteritis.
Duval F, Lacoste I, Galli G, Chaumont H, Solé G, Léger F, Damon-Perrière N, Rouanet M, Le Masson G, Mathis S. Duval F, et al. Among authors: rouanet m. Neurologist. 2018 Jan;23(1):23-28. doi: 10.1097/NRL.0000000000000162. Neurologist. 2018. PMID: 29266041
Head drops are also observed in advanced Huntington disease.
Spampinato U, Debruxelles S, Rouanet M, Lafoucrière D, Bader B, Danek A, Tison F, Goizet C. Spampinato U, et al. Among authors: rouanet m. Parkinsonism Relat Disord. 2013 May;19(5):569-70. doi: 10.1016/j.parkreldis.2013.01.012. Epub 2013 Feb 17. Parkinsonism Relat Disord. 2013. PMID: 23422157 No abstract available.
Natural history of SPINK1 germline mutation related-pancreatitis.
Muller N, Sarantitis I, Rouanet M, de Mestier L, Halloran C, Greenhalf W, Férec C, Masson E, Ruszniewski P, Lévy P, Neoptolemos J, Buscail L, Rebours V. Muller N, et al. Among authors: rouanet m. EBioMedicine. 2019 Oct;48:581-591. doi: 10.1016/j.ebiom.2019.09.032. Epub 2019 Oct 15. EBioMedicine. 2019. PMID: 31628023 Free PMC article.
30 results