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Early-onset phenotype of bi-allelic GRN mutations.
Neuray C, Sultan T, Alvi JR, Franca MC, Assmann B, Wagner M, Canafoglia L, Franceschetti S, Rossi G, Santana I, Macario MC, Almeida MR, Kamate M, Parikh S, Elloumi HZ, Murphy D, Efthymiou S, Maroofian R, Houlden H. Neuray C, et al. Among authors: franca mc. Brain. 2021 Mar 3;144(2):e22. doi: 10.1093/brain/awaa414. Brain. 2021. PMID: 33351065 No abstract available.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, Barsottini O, Cortese A, Danzi MC, França MC Jr, Brais B, Zuchner S, Houlden H, Raskin S, Marques W, Teive HA. Novis LE, et al. Among authors: franca mc jr. Neurol Genet. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37646005 Free PMC article.
Diffuse decreased gray matter in patients with idiopathic craniocervical dystonia: a voxel-based morphometry study.
Piccinin CC, Piovesana LG, Santos MC, Guimarães RP, De Campos BM, Rezende TJ, Campos LS, Torres FR, Amato-Filho AC, França MC Jr, Lopes-Cendes I, Cendes F, D'Abreu A. Piccinin CC, et al. Among authors: franca mc jr. Front Neurol. 2015 Jan 8;5:283. doi: 10.3389/fneur.2014.00283. eCollection 2014. Front Neurol. 2015. PMID: 25620953 Free PMC article.
Multimodal MRI-based study in patients with SPG4 mutations.
Rezende TJ, de Albuquerque M, Lamas GM, Martinez AR, Campos BM, Casseb RF, Silva CB, Branco LM, D'Abreu A, Lopes-Cendes I, Cendes F, França MC Jr. Rezende TJ, et al. Among authors: franca mc jr. PLoS One. 2015 Feb 6;10(2):e0117666. doi: 10.1371/journal.pone.0117666. eCollection 2015. PLoS One. 2015. PMID: 25658484 Free PMC article.
Structural signature of SCA3: From presymptomatic to late disease stages.
Rezende TJR, de Paiva JLR, Martinez ARM, Lopes-Cendes I, Pedroso JL, Barsottini OGP, Cendes F, França MC Jr. Rezende TJR, et al. Among authors: franca mc jr. Ann Neurol. 2018 Sep;84(3):401-408. doi: 10.1002/ana.25297. Epub 2018 Sep 4. Ann Neurol. 2018. PMID: 30014526
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Rebelo AP, et al. Among authors: franca mc. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158. Brain. 2023. PMID: 37170631 Free PMC article.
225 results