Joana Damasio
Overview
Explore the profile of Joana Damasio including associated specialties, affiliations and a list of published articles.
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Articles
67
Citations
349
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Recent Articles
11.
Damasio J, Barbot C, Felgueiras R, Brandao A, Barros J, Oliveira J, et al.
Mov Disord
. 2023 Jun;
38(5):910-911.
PMID: 37303095
No abstract available.
12.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, et al.
Am J Hum Genet
. 2023 Jun;
110(7):1098-1109.
PMID: 37301203
Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to...
13.
Malaquias M, Oliveira J, Santos M, Brandao A, Sardoeira A, Sequeiros J, et al.
Mov Disord Clin Pract
. 2023 Apr;
10(4):670-676.
PMID: 37070055
Background: Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been...
14.
Santos C, Malheiro S, Correia M, Damasio J
Cells
. 2023 Apr;
12(7).
PMID: 37048110
Introduction: Hereditary cerebellar ataxias (HCAs) are a heterogenous group of neurodegenerative disorders associated with severe disability. Treatment options are limited and overall restricted to symptomatic approaches, leading to poor prognoses....
15.
Vollstedt E, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, et al.
Mov Disord
. 2023 Jan;
38(2):286-303.
PMID: 36692014
Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated...
16.
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Neri S, Maia N, Fortuna A, Damasio J, Coale E, Willis M, et al.
Eur J Med Genet
. 2022 Sep;
65(11):104624.
PMID: 36130690
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. To date, four genes are implicated in this condition. The first two...
17.
Moura J, Sardoeira A, Oliveira J, Mendes A, Barros J, Sequeiros J, et al.
Can J Neurol Sci
. 2022 May;
50(3):469-471.
PMID: 35538608
No abstract available.
18.
Moura J, Duarte S, Sardoeira A, Neves-Maia J, Damasio J, Taipa R, et al.
Neurohospitalist
. 2022 Apr;
12(2):383-387.
PMID: 35401915
Introduction: There is a complex interplay between systemic autoimmunity, immunosuppression, and infections. Any or all of these can result in neurologic manifestations, requiring diligence on the part of neurologists. Case...
19.
Santos M, Damasio J, Carmona S, Neto J, Dehghani N, Guedes L, et al.
Cells
. 2022 Mar;
11(6).
PMID: 35326432
Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing...
20.
Corra M, Vila-Cha N, Sardoeira A, Hansen C, Sousa A, Reis I, et al.
Brain
. 2022 Jan;
146(1):225-236.
PMID: 35088837
Peripheral neuropathy is a common problem in patients with Parkinson's disease. Peripheral neuropathy's prevalence in Parkinson's disease varies between 4.8-55%, compared with 9% in the general population. It remains unclear...