2024

FRAIMAN, PEDRO HENRIQUE ALMEIDA ; SILVA, THIAGO YOSHINAGA TONHOLO ; MARUSSI, VICTOR HUGO ROCHA ; DE OLIVEIRA, JOÃO BOSCO ; BARSOTTINI, ORLANDO G.P. PEDROSO, JOSÉ LUIZ . Fragile X premutation mimicking late onset hereditary spastic paraplegia. Parkinsonism & Related Disorders, v. 119, p. 105964, 2024.

2023

JACINTO-SCUDEIRO, LAIS ALVES; ROTHE-NEVES, RUI; DOS SANTOS, VANESSA BRZOSKOWSKI; MACHADO, GUSTAVO DARIVA; BURGUÊZ, DANIELA; PADOVANI, MARINA MARTINS PEREIRA; AYRES, ANNELISE; RECH, RAFAELA SOARES; GONZÁLEZ-SALAZAR, CARELIS; JUNIOR, MARCONDES CAVALCANTE FRANÇA; SAUTE, JONAS ALEX MORALES; OLCHIK, MAIRA ROZENFELD. Dysarthria in hereditary spastic paraplegia type 4. Clinics, v. 78, p. 100128, 2023. https://doi.org/10.1016/j.clinsp.2022.100128

CUBILLOS-ARCILA, DIANA MARIA; MARTINS, VALÉRIA FEIJÓ; ZANARDI, ANA PAULA JANNER; MACHADO, GUSTAVO DARIVA ; BURGUÊZ, DANIELA; GOMEÑUKA, NATALIA ANDREA; PEYRÉ-TARTARUGA, LEONARDO ALEXANDRE; SAUTE, JONAS ALEX MORALES. Static Balance in Hereditary Spastic Paraplegias: a Cross-sectional Study. The Cerebellum, v. x, p. x-x, 2023.  https://doi: 10.1007/s12311-023-01518-4

CUBILLOS ARCILA, DIANA MARIA; DARIVA MACHADO, GUSTAVO; MARTINS, VALÉRIA FEIJÓ; LEOTTI, VANESSA BIELEFELDT; SCHÜLE, REBECCA; PEYRÉ-TARTARUGA, LEONARDO ALEXANDRE; SAUTE, JONAS ALEX MORALES. Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias. Frontiers in Neuroscience, v. 17, p. online-online, 2023. https://doi: 10.3389/fnins.2023.1226479

PEDROSO, JOSE LUIZ ; VALE, THIAGO CARDOSO ; FREITAS, JULIAN LETÍCIA DE ; ARAÚJO, FILIPE MIRANDA MILAGRES ; MEIRA, ALEX TIBURTINO ; NETO, PEDRO BRAGA ; FRANÇA, MARCONDES C. ; TUMAS, VITOR ; TEIVE, HÉLIO A. G. ; BARSOTTINI, ORLANDO G. P. . Movement disorders in hereditary spastic paraplegias. Arquivos De Neuro-Psiquiatria, v. 81, p. 1000-1007, 2023. http://doi: 10.1055/s-0043-1777005

2022

FUSSIGER, HELENA ; PEREIRA, BRUNA LETÍCIA DA SILVA ; PADILHA, JANICE PACHECO DIAS ; Donis, Karina Carvalho ; QUAIO, C. R. D. ; MORENO, C. A. ; PERRONE, E. ; PROTA, J. R. M. ; CERONI, J. R. M. ; CHEN, K. ; VIRMOND, L. A. ; SILVA, M. F. B. ; MINILLO, R. M. ; ALMEIDA, T. F. ; PELEGRINO, K. O. ; FERREIRA, A. F. M. ; COLICHIO, G. B. C. ; OLIVEIRA, A. P. A. ; TEIXEIRA, A. C. B. ; SAUTE, J.A. . Copy number variations in SPAST and ATL1 are rare among Brazilians. Clinical Genetics, v. x, p. x-x, 2022. https://doi: 10.1111/cge.14280

2021

CUBILLOS-ARCILA, DIANA MARIA; MACHADO, GUSTAVO DARIVA; SEHNEM, LAUREN; BURGUÊZ, DANIELA; ZANARDI, ANA PAULA JANNER; MARTINS, VALÉRIA FEIJÓ; PEYRÉ-TARTARUGA, LEONARDO ALEXANDRE; SAUTE, JONAS ALEX MORALES. Progression of Functional Gait in Hereditary Spastic Paraplegias. Cerebellum, v. x, p. x-x, 2021. https://doi: 10.1007/s12311-021-01302-2

GIORDANI, GABRIELA MARCHISIO; DINIZ, FABRÍCIO; FUSSIGER, HELENA; GONZALEZ-SALAZAR, CARELIS; DONIS, KARINA CARVALHO; FREUA, FERNANDO; ORTEGA, ROBERTA PAIVA MAGALHÃES; DE FREITAS, JULIAN LETÍCIA; BARSOTTINI, ORLANDO GRAZIANI POVOAS; ROSEMBERG, SERGIO; KOK, FERNANDO; PEDROSO, JOSÉ LUIZ; FRANÇA, MARCONDES CAVALCANTE; SAUTE, JONAS ALEX MORALES. Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias. Scientific Reports, v. 11, p. x-x, 2021. http://doi: 10.1038/s41598-021-01635-2.

BRIGHENTE, SAMANTA FERRARESI; VICUÑA, PAUL ; RODRIGUES LOUZADA, ANA LUIZA ; GIORDANI, GABRIELA MARCHISIO; FUSSIGER, HELENA; DOS SANTOS, MARCO ANTONNIO ROCHA; CUBILLOS-ARCILA, DIANA MARIA; WINCKLER, PABLO BREA; SAUTE, JONAS ALEX MORALES. Evoked potentials as biomarkers of hereditary spastic paraplegias: A case-control study. PLoS One, v. 16, p. e0259397, 2021. http://doi: 10.1371/journal.pone.0259397

SERVELHERE, K.R. ; CASSEB, R.F. ; DE LIMA, F.D. ; REZENDE, T.J.R. ; RAMALHO, L.P. ; FRANÇA, M.C. . Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes. American Journal Of Neuroradiology, v. 42, p. 610-615, 2021. http://doi: 10.3174/ajnr.A7017

SERVELHERE, KATIANE R. ; REZENDE, THIAGO JUNQUEIRA RIBEIRO ; LIMA, FABRÍCIO DINIZ ; BRITO, MARIANA RABELO ; FRANÇA NUNES, RENAN FLÁVIO ; CASSEB, RAPHAEL F. ; PEDROSO, JOSÉ LUIZ ; BARSOTTINI, ORLANDO GRAZIANI P. ; CENDES, FERNANDO ; FRANÇA, MARCONDES C. . Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes. Movement Disorders, v. 36, p. 1644-1653, 2021.  http://doi: 10.1002/mds.28519.

DINIZ DE LIMA, FABRICIO ; FABER, INGRID ; SERVELHERE, KATIANE R. ; BITTAR, MARIA FERNANDA R. ; MARTINEZ, ALBERTO R.M. ; PIOVESANA, LUIZA G. ; MARTINS, MELINA P. ; MARTINS, CARLOS ROBERTO ; BENAGLIA, TATIANA ; SÁ CARVALHO, BENILTON ; NUCCI, ANAMARLI ; FRANÇA, MARCONDES C. Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia ¿ The SPASTOX Trial. Movement Disorders, v. 36, p. 1654-1663, 2021.  http://doi:10.1002/mds.28523

DINIZ DE LIMA, FABRICIO ; FRANÇA, MARCONDES C. Reply to: -Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia-The SPASTOX Trial-. Movement Disorders, v. 36, p. 1734-1735, 2021.  http://doi: 10.1002/mds.28523

2020

CARDOZO-HERNÁNDEZ, ANA LUISA DE CARVALHO ; REZENDE, THIAGO JUNQUEIRA RIBEIRO ; FRANÇA, MARCONDES CAVALCANTE. Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage. Journal Of The Neurological Sciences, v. 416, p. 116982, 2020.  http:// doi: 10.1016/j.jns.2020.116982

2019

JACINTO-SCUDEIRO, LAÍS ALVES; DARIVA MACHADO, GUSTAVO; AYRES, ANNELISE; BURGUÊZ, DANIELA; POLESE-BONATO, MARCIA; GONZÁLEZ-SALAZAR, CARELIS; SIEBERT, MARINA; CAVALCANTE FRANÇA JR., MARCONDES; OLCHIK, MAIRA ROZENFELD; MORALES SAUTE, JONAS ALEX. Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?. Frontiers in Neurology, v. 10, p. x-x, 2019. http://doi: 10.3389/fneur.2019.00508

JACINTO-SCUDEIRO, LAÍS ALVES; MACHADO, GUSTAVO DARIVA; AYRES, ANNELISE; BURGUÊZ, DANIELA; POLESE-BONATTO, MARCIA; GONZÁLEZ-SALAZAR, CARELIS; SIEBERT, MARINA; FRANÇA JUNIOR, MARCONDES CAVALCANTE; OLCHIK, MAIRA ROZENFELD; SAUTE, JONAS ALEX MORALES. Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias. Arquivos de Neuro-Psiquiatria (Online), v. 77, p. 843-847, 2019. http://doi: 10.1590/0004-282X20190180

GONZÁLEZ-SALAZAR, C.; TAKAZAKI, K. A. G.; MARTINEZ, A. R. M.; PIMENTEL-SILVA, L. R.; JACINTO-SCUDEIRO, L. A.; NAKAGAWA, É. Y.; FUJIWARA MURAKAMI, C. E.; SAUTE, J. A. M. ; PEDROSO, J. L.; BARSOTTINI, O. G. P.; TEIVE, H. A. G.; FRANÇA JR, M. C. Autonomic dysfunction in hereditary spastic paraplegia type 4. European Journal Of Neurology, v. 26, p. 687-693, 2019. http://doi: 10.1111/ene.13878

PASCUAL, B. ; DE BOT, S.T. ; DANIELS, M.R. ; FRANÇA, M.C. ; TORO, C. ; RIVEROL, M. ; HEDERA, P. ; BASSI, M.T. ; BRESOLIN, N. ; VAN DE WARRENBURG, B.P. ; KREMER, B. ; NICOLAI, J. ; CHARLES, P. ; XU, J. ; SINGH, S. ; PATRONAS, N.J. ; FUNG, S.H. ; GREGORY, M.D. ; MASDEU, J.C. ¿Ears of the Lynx¿ MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. American Journal Of Neuroradiology, v. 40, p. 199-203, 2019.  http://doi: 10.3174/ajnr.A5935

DA GRAÇA, FELIPE FRANCO ; DE REZENDE, THIAGO JUNQUEIRA RIBEIRO ; VASCONCELLOS, LUIZ FELIPE ROCHA ; PEDROSO, JOSÉ LUIZ ; BARSOTTINI, ORLANDO GRAZIANI P. ; FRANÇA, MARCONDES C.. Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives. Frontiers in Neurology, v. 9, p. 1117, 2019.  http://doi: 10.3389/fneur.2018.01117

2018

MELO, U.S.; FREUA, F.; LYNCH, D.S.; RIPA, B.D.; TENORIO, R.B.; SAUTE, J.A.M.; DE SOUZA LEITE, F.; KITAJIMA, J.; HOULDEN, H.; ZATZ, M.; KOK, F. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clinical Genetics, v. 94, p. 482-483, 2018. http://doi: 10.1111/cge.13428.

SERVELHERE, KATIANE R. ; FABER, INGRID ; MARTINEZ, ALBERTO ; NICKEL, RENATO ; MORO, ADRIANA ; GERMINIANI, FRANCISCO M. B. ; MOSCOVICH, MARIANA ; BLUME, TATIANE R. ; MUNHOZ, RENATO P. ; TEIVE, HÉLIO A. G. ; FRANÇA JR, MARCONDES C. Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations. Arquivos de Neuro-Psiquiatria (Online), v. 76, p. 183-188, 2018.  http://doi: 10.1590/0004-282×20180013

FABER, INGRID ; MARTINEZ, ALBERTO ROLIM MURO ; DE REZENDE, THIAGO JUNQUEIRA ; JÚNIOR, CARLOS ROBERTO MARTINS ; MARTINS, MELINA PAZIAN ; LOURENÇO, CHARLES MARQUES ; JÚNIOR, WILSON MARQUES ; MONTECCHIANI, CELESTE ; ORLACCHIO, ANTONIO ; PEDROSO, JOSE LUIZ ; BARSOTTINI, ORLANDO GRAZIANI POVOAS ; LOPES-CENDES, ÍSCIA ; JÚNIOR, MARCONDES CAVALCANTE FRANÇA. SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. NeuroImage-Clinical, v. 19, p. 848-857, 2018.  http://doi: 10.1016/j.nicl.2018.05.031

FABER, INGRID ; MARTINEZ, ALBERTO ROLIM MURO ; MARTINS, CARLOS ROBERTO ; MAIA, MAIDANE LUISE ; SOUZA, JULIANA PASQUOTTO ; LOURENÇO, CHARLES MARQUES ; MARQUES, WILSON ; MONTECCHIANI, CELESTE ; ORLACCHIO, ANTONIO ; PEDROSO, JOSE LUIZ ; BARSOTTINI, ORLANDO GRAZIANI POVOAS ; RAMOS, CELSO DARÍO ; LOPES-CENDES, ÍSCIA ; FRIEDMAN, JOSEPH H. ; AMORIM, BÁRBARA JUAREZ ; FRANÇA, MARCONDES CAVALCANTE. SPG11-related parkinsonism: Clinical profile, molecular imaging and -dopa response. Movement Disorders, v. 33, p. 1650-1656, 2018.  http://doi: 10.1002/mds.27491.

2017

BURGUEZ, DANIELA; POLESE-BONATTO, MÁRCIA; SCUDEIRO, LAÍS ALVES JACINTO; BJÖRKHEM, INGEMAR; SCHÖLS, LUDGER; JARDIM, LAURA BANNACH; MATTE, URSULA; SARAIVA-PEREIRA, MARIA LUIZA; SIEBERT, MARINA; SAUTE, JONAS ALEX MORALES. Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach. Journal Of The Neurological Sciences, v. 383, p. 18-25, 2017. http://doi: 10.1016/j.jns.2017.10.010.

SCHÖLS, LUDGER; RATTAY, TIM W; MARTUS, PETER; MEISNER, CHRISTOPH; BAETS, JONATHAN; FISCHER, IMMA; JÄGLE, CHRISTINE; FRAIDAKIS, MATTHEW J; MARTINUZZI, ANDREA; SAUTE, JONAS ALEX; SCARLATO, MARINA; ANTENORA, ANTONELLA; STENDEL, CLAUDIA; HÖFLINGER, PHILIP; LOURENCO, CHARLES MARQUES; ABREU, LISA; SMETS, KATRIEN; PAUCAR, MARTIN; DECONINCK, TINE; BIS, DANA M. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain, v. x, p. x, 2017. http://doi: 10.1093/brain/awx273.

FABER, INGRID ; PEREIRA, EDUARDO RAFAEL; MARTINEZ, ALBERTO R. M. ; FRANÇA JR, MARCONDES ; TEIVE, HÉLIO AFONSO GHIZONI. Hereditary spastic paraplegia from 1880 to 2017: an historical review. Arquivos de Neuro-Psiquiatria, v. 75, p. 813-818, 2017.  http://doi: 10.1590/0004-282X20170160

PEDROSO, JOSÉ LUIZ ; VALE, THIAGO CARDOSO ; BUENO, FABIANA LUCAS ; MARUSSI, VICTOR HUGO ROCHA ; AMARAL, LÁZARO LUÍS FARIA DO ; FRANÇA, MARCONDES C. ; BARSOTTINI, ORLANDO G. SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit. Parkinsonism & Related Disorders, v. 47, p. 88-90, 2017.  http://doi: 10.1016/j.parkreldis.2017.12.004

2016

SERVELHERE, K. R.; FABER, I.; SAUTE, J. A. M.; MOSCOVICH, M.; D’ABREU, A.; JARDIM, L. B.; TEIVE, H. A. G.LOPES-CENDES, I.; FRANCA, M. C. Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations. European Journal of Neurology (Print), v. 23, p. 408-411, 2016. http://doi: 10.1111/ene.12839.

ABER, INGRID ; BRANCO, LUCAS MELO T.; FRANÇA JÚNIOR, MARCONDES CAVALVANTE. Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders. Dementia & Neuropsychologia, v. 10, p. 276-279, 2016.   http://doi: 10.1590/s1980-5764-2016dn1004004

2014

FABER, I. ; SERVELHERE, K. R. ; MARTINEZ, A.R.M. ; D’ABREU, ANELYSSA ; LOPES-CENDES, I ; FRANÇA JR, MARCONDES C. Clinical features and management of hereditary spastic paraplegia. Arquivos de Neuro-Psiquiatria (Impresso), v. 72, p. 219, 2014.  http://doi: 10.1590/0004-282×20130248

2013

FRANÇA, MC; DOGINI, DB; D’Abreu, A; TEIVE, HAG; MUNHOZ, RP; RASKIN, S; MORO, A; MELO, CC; GOMES, AP; SAUTE, JAM; JARDIM, LB; LOPES-CENDES, I. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil. Clinical Genetics, v. 86, p. n/a-n/a, 2013. http://doi: 10.1111/cge.12252.

2012

FRANÇA JR., MARCONDES C.; YASUDA, C. L. ; PEREIRA, F. R. ; DABREU, A. ; LOPES, C. M. ; ROSA, M. M. V. ; CENDES F ; LOPES-CENDES I. White and Grey Matter Abnormalities in Patients with SPG11 Mutations. Journal of Neurology, Neurosurgery and Psychiatry, v. 83, p. 828-833, 2012.  http://doi: 10.1136/jnnp-2011-300129

2007

FRANÇA, MARCONDES C.; D’ABREU, ANELYSSA ; MAURER–MORELLI, CLÁUDIA V. ; SECCOLIN, RODRIGO ; APPENZELLER, SIMONE ; ALESSIO, ANDRÉIA ; DAMASCENO, BENITO P. ; NUCCI, ANAMARLI ; CENDES, FERNANDO ; LOPES-CENDES, ISCIA. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Movement Disorders, v. 22, p. 1556-1562, 2007.  http://doi: 10.1002/mds.21480