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Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
da Silva Schmitt G, Martinez ARM, da Graça FF, de Lima FD, Bonadia LC, Amorim BJ, Nucci A, França MC Jr. da Silva Schmitt G, et al. Among authors: franca mc jr. Mov Disord. 2020 Oct;35(10):1889-1890. doi: 10.1002/mds.28286. Mov Disord. 2020. PMID: 33068476 No abstract available.
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E. Mendonça RH, et al. Among authors: franca mc jr. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
Corticospinal tract involvement in spinocerebellar ataxia type 3: a diffusion tensor imaging study.
Inada BSY, Rezende TJR, Pereira FV, Garcia LÁL, da Rocha AJ, Neto PB, Barsottini OGP, França MC Jr, Pedroso JL. Inada BSY, et al. Among authors: franca mc jr. Neuroradiology. 2020 Sep 2. doi: 10.1007/s00234-020-02528-3. Online ahead of print. Neuroradiology. 2020. PMID: 32876704
Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage.
Cardozo-Hernández ALC, Rezende TJR, França MC Jr. Cardozo-Hernández ALC, et al. Among authors: franca mc jr. J Neurol Sci. 2020 Jun 20;416:116982. doi: 10.1016/j.jns.2020.116982. Online ahead of print. J Neurol Sci. 2020. PMID: 32593884
A 5-Year Longitudinal Clinical and Magnetic Resonance Imaging Study in Spinocerebellar Ataxia Type 3.
Piccinin CC, Rezende TJR, de Paiva JLR, Moysés PC, Martinez ARM, Cendes F, França MC Jr. Piccinin CC, et al. Among authors: franca mc jr. Mov Disord. 2020 Jun 9. doi: 10.1002/mds.28113. Online ahead of print. Mov Disord. 2020. PMID: 32515873
Sensory neuronopathy is a specific and disabling neurological manifestation of autoimmune hepatitis.
Martinez ARM, de Lima FD, Martins MP, Pereira IE, Miotto N, Mazo DFC, Vigani AG, da Costa LBE, Stucchi RSB, Almeida JRS, Nucci A, França MC Jr. Martinez ARM, et al. Among authors: franca mc jr. Eur J Neurol. 2020 May 22. doi: 10.1111/ene.14355. Online ahead of print. Eur J Neurol. 2020. PMID: 32441838
Cerebellar degeneration in adult spinal muscular atrophy patients.
de Borba FC, Querin G, França MC Jr, Pradat PF. de Borba FC, et al. Among authors: franca mc jr. J Neurol. 2020 Sep;267(9):2625-2631. doi: 10.1007/s00415-020-09875-4. Epub 2020 May 10. J Neurol. 2020. PMID: 32388834
CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort.
Gonçalves JPN, de Andrade HMT, Cintra VP, Bonadia LC, Leoni TB, de Albuquerque M, Martins MP, de Borba FC, Couteiro RED, de Oliveira DS, Claudino R, Gonçalves MVM, Dourado ME, de Souza LC, Teixeira AL, de Godoy Rousseff Prado L, Tumas V, Oliveira ASB, Nucci A, Lopes-Cendes I, Marques W Jr, França MC Jr. Gonçalves JPN, et al. Among authors: franca mc jr. J Neurol Sci. 2020 Jul 15;414:116842. doi: 10.1016/j.jns.2020.116842. Epub 2020 Apr 19. J Neurol Sci. 2020. PMID: 32339968
Laryngeal electromyography in amyotrophic lateral sclerosis.
Martins MP, de Lima FD, Bernardes Leoni T, Martinez ARM, Nubiato Crespo A, André Teixeira Kimaid P, Nucci A, de Carvalho M, França MC Jr. Martins MP, et al. Among authors: franca mc jr. J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):730-732. doi: 10.1136/jnnp-2020-322910. Epub 2020 Apr 21. J Neurol Neurosurg Psychiatry. 2020. PMID: 32317399
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. Bevilacqua JA, et al. Among authors: franca mc jr. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. Orphanet J Rare Dis. 2020. PMID: 31931849 Free PMC article.
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