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Sara Morais

Observed names: Morais, Sara Peres de, S. Morais, S. Sara Morais, Sara Peres De Morais, Sara Peres Morias
Observed institutions: Centre National de la Recherche Scientifique, Inserm, École Pratique des Hautes Études, Universidade do Porto, Université Paris Sciences et Lettres, Sorbonne Université, Institut des Sciences Moléculaires, Pitié-Salpêtrière Hospital, Institut du Cerveau, Institut de Biologie Moléculaire et Cellulaire, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Instituto de Biologia Molecular e Celular, Instituto de Ciências Biomédicas Albel Salazar, Université Pierre-et-Marie-Curie, Institute of Molecular and Cell Biology
ORCID: 0000-0003-2543-0376
Observed ORCID: 0000-0003-2543-0376
OpenAlex ID: A5078435975
Update on the Genetics of Spastic Paraplegias
2019 · Maxime Boutry, Sara Morais, et al. · Current Neurology and Neuroscience Reports · 118
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
2015 · Marie Coutelier, Cyril Goizet, et al. · Brain · 110
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias
2017 · Sara Morais, Laure Raymond, et al. · European Journal of Human Genetics · 64
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Rare Neurodegenerative Diseases: Clinical and Genetic Update
2017 · Antoni Matilla-Dueñas, Marc Corral-Juan, et al. · Advances in experimental medicine and biology · 51
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD
2016 · Sara Morais, Rita Bastos-Ferreira, et al. · Neurology Genetics · 27
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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
2021 · Jean-Loup Méreaux, Cristina Firanescu, et al. · Neurogenetics · 17
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Congenital ataxia due to novel variant in ATP8A2
2021 · Joana Damásio, Diana Santos, et al. · Clinical Genetics · 10
Parkin truncating variants result in a loss-of-function phenotype
2019 · Mariana Santos, Sara Morais, et al. · Scientific Reports · 9
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Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A
2016 · Maria da Conceição Pereira, Sara Morais, et al. · ASN NEURO · 6
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Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant
2025 · Rita Nunes Rato, André Fernandes, et al. · Parkinsonism & Related Disorders
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy
2025 · Pritha Bisarad, Yung-Chun Wang, et al. · medRxiv
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Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant
2024 · Sara Morais, José Leal Loureiro, et al. · Clinical Genetics
Author response for "Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant"
2024 · Sara Morais, José Leal Loureiro, et al. · Publons reviews and discussion
Levodopa-responsive spastic paraparesis associated with a pathogenic variant in GCH1
2024 · S. Costa, R. Rodrigues, et al. · Parkinsonism & Related Disorders
Author response for "Congenital ataxia due to novel variant in ATP8A2"
2021 · Joana Damásio, Diana Santos, et al. · Publons reviews and discussion
Unravelling new spastic paraplegia genes and their functions through next generation sequencing
2018 · Morais, Sara Peres de · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Hereditary spastic paraplegias: design of a diagnosis kit using next generation sequencing
2014 · Laure Raymond, Emeline Mundwiller, et al.
Juvenile Parkinson disease caused by parkin mutations: large deletions and pathogenic mechanisms
2011 · Sara Morais · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Works count: 19
Citation count: 412
H-index: 8
I10-index: 7
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