| Journal article |
- Sequeiros J; Loureiro JL; Barros J. "In Memoriam: Paula Coutinho (1941-2022), a pioneer in Neurogenetics.". Journal of
the neurological sciences (2023): http://europepmc.org/abstract/med/37713951.
10.1016/j.jns.2023.120799
- Joana Damásio; Clara Barbot; Rui Felgueiras; Ana Filipa Brandão; José Barros; Jorge Oliveira; Jorge Sequeiros. "Early-Onset
and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST". Movement Disorders (2023): https://doi.org/10.1002/mds.29380.
10.1002/mds.29380
- Malaquias MJ; Oliveira J; Santos M; Brandão AF; Sardoeira A; Sequeiros J; Barros J; Damásio J. "Pseudodominance in Friedreich
Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation.". Movement disorders clinical practice
(2023): http://europepmc.org/abstract/med/37070055.
10.1002/mdc3.13694
- Moura J; Sardoeira A; Oliveira J; Mendes A; Barros J; Sequeiros J; Barbot C; Damásio J. "Childhood-Onset Writer's Cramp in
Hereditary Spastic Paraplegia Type 15.". The Canadian journal of neurological sciences. Le journal canadien des sciences
neurologiques (2022): http://europepmc.org/abstract/med/35538608.
10.1017/cjn.2022.59
- "Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters.". European journal
of human genetics : EJHG (2022): http://europepmc.org/abstract/med/35393538.
10.1038/s41431-021-01026-1
- Santos M; Damásio J; Carmona S; Neto JL; Dehghani N; Guedes LC; Barbot C; et al. "Molecular Characterization of Portuguese
Patients with Hereditary Cerebellar Ataxia.". Cells (2022): http://europepmc.org/abstract/med/35326432.
10.3390/cells11060981
- "Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report". Cerebellum & Ataxias 8 1 (2021):
http://dx.doi.org/10.1186/s40673-021-00140-6.
10.1186/s40673-021-00140-6
- Damásio J; Santos M; Samões R; Araújo M; Macedo M; Sardoeira A; Cavaco S; et al. "Novel KMT2B mutation causes cerebellar ataxia:
Expanding the clinical phenotype.". Clinical genetics (2021): http://europepmc.org/abstract/med/34477219.
10.1111/cge.14055
- "José Pereira Monteiro, the President". Sinapse 21 1 (2021): 8-10. http://dx.doi.org/10.46531/sinapse/pe/210021/2021.
10.46531/sinapse/pe/210021/2021
- "Das Doenças Humanas por Priões à COVID-19: 20 Anos de Sinapse". Sinapse 21 1 (2021): http://dx.doi.org/10.46531/sinapse/ed/210020.
10.46531/sinapse/ed/210020
- Damásio J; Santos D; Sara Morais S; Brás J; Guerreiro R; Sardoeira A; Cavaco S; et al. "Congenital ataxia due to novel variant
in ATP8A2.". Clinical genetics (2021): http://europepmc.org/abstract/med/33682124.
10.1111/cge.13954
- Barros, J.. "Covid-19 pandemics: Mitigating an injustice,Pandemia covid-19: Mitigação de uma injustiça". Sinapse 20
2 (2020): 5-8. http://www.scopus.com/inward/record.url?eid=2-s2.0-85097828020&partnerID=MN8TOARS.
10.46531/sinapse/ED/COVID19/BarrosJ/2020
- Calejo M; Salgado P; Moreira B; Correia C; Barros J. "Botulinum Toxin Type A Injections as an Effective Treatment of Refractory
Multiple Sclerosis-Related Trigeminal Pain - A Case Report.". Headache (2019): http://europepmc.org/abstract/med/31424566.
10.1111/head.13609
- Barros, J.. "Luís de Carvalho, a great public servant,Luís de Carvalho, Grande servidor public". Sinapse 16 1 (2016):
55-58. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026802942&partnerID=MN8TOARS.
- Barros J; Ferreira A; Brandão AF; Lemos C; Correia F; Damásio J; Tuna A; et al. "Familial hemiplegic migraine due to L263V
SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.". Cephalalgia : an international journal
of headache (2014): http://europepmc.org/abstract/med/24646837.
10.1177/0333102414527015
- Barros J; Ruano L; Domingos J; Tuna A; Damásio J; Alonso I; Silveira I; Sequeiros J; Coutinho P. "The prevalence of familial
hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.". Headache (2013): http://europepmc.org/abstract/med/24898624.
10.1111/head.12260
- Barros J; Barreto R; Brandão AF; Domingos J; Damásio J; Ramos C; Lemos C; et al. "Monozygotic twin sisters discordant for
familial hemiplegic migraine.". The journal of headache and pain (2013): http://europepmc.org/abstract/med/24041236.
10.1186/1129-2377-14-77
- Quintas M; Neto JL; Pereira-Monteiro J; Barros J; Sequeiros J; Sousa A; Alonso I; Lemos C. "Interaction between ¿-aminobutyric
acid A receptor genes: new evidence in migraine susceptibility.". PloS one (2013): http://europepmc.org/abstract/med/24040174.
10.1371/journal.pone.0074087
- Coutinho P; Ruano L; Loureiro JL; Cruz VT; Barros J; Tuna A; Barbot C; et al. "Hereditary ataxia and spastic paraplegia in
Portugal: a population-based prevalence study.". JAMA neurology (2013): http://europepmc.org/abstract/med/23609960.
10.1001/jamaneurol.2013.1707
- Barros J; Damásio J; Tuna A; Alves I; Silveira I; Pereira-Monteiro J; Sequeiros J; et al. "Cerebellar ataxia, hemiplegic migraine,
and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.". JAMA neurology
(2013): http://europepmc.org/abstract/med/23407676.
10.1001/jamaneurol.2013.591
- Quintas M; Neto J; Pereira-Monteiro J; Barros J; Sequeiros J; Sousa A; Alonso I; Lemos C. "Unraveling migraine susceptibility
in females: the involvement of GABA genes". The journal of headache and pain (2013): http://europepmc.org/abstract/PMC/PMC3619994.
- Nogueira, C.; Barros, J.; Sá, M.J.; Azevedo, L.; Taipa, R.; Torraco, A.; Meschini, M.C.; et al. "Novel TTC19 mutation in a
family with severe psychiatric manifestations and complex III deficiency". Neurogenetics 14 2 (2013): 153-160. http://www.scopus.com/inward/record.url?eid=2-s2.0-84877726828&partnerID=MN8TOARS.
10.1007/s10048-013-0361-1
- Lemos C; Alonso I; Barros J; Sequeiros J; Pereira-Monteiro J; Mendonça D; Sousa A. "Assessing risk factors for migraine: differences
in gender transmission.". PloS one (2012): http://europepmc.org/abstract/med/23185642.
10.1371/journal.pone.0050626
- Barros J; Mendes A; Matos I; Pereira-Monteiro J. "Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).".
The journal of headache and pain (2012): http://europepmc.org/abstract/med/22661290.
10.1007/s10194-012-0462-5
- Barros J; Damásio J; Tuna A; Pereira-Monteiro J. "Migraine-induced epistaxis and sporadic hemiplegic migraine: unusual features
in the same patient.". Case reports in neurology (2012): http://europepmc.org/abstract/med/22807908.
10.1159/000339824
- Monteiro C; Barros J; Taipa R; Pereira-Monteiro J. "Sporadic hemiplegic migraine with normal imaging as the initial manifestation
of CADASIL.". Cephalalgia : an international journal of headache (2012): http://europepmc.org/abstract/med/22250206.
10.1177/0333102411434809
- Lemos C; Neto JL; Pereira-Monteiro J; Mendonça D; Barros J; Sequeiros J; Alonso I; Sousa A. "A role for endothelin receptor
type A in migraine without aura susceptibility? A study in Portuguese patients.". European journal of neurology (2010):
http://europepmc.org/abstract/med/20964792.
10.1111/j.1468-1331.2010.03239.x
- Lemos C; Mendonça D; Pereira-Monteiro J; Barros J; Sequeiros J; Alonso I; Sousa A. "BDNF and CGRP interaction: implications
in migraine susceptibility.". Cephalalgia : an international journal of headache (2010): http://europepmc.org/abstract/med/20959432.
10.1177/0333102410368443
- Lemos C; Pereira-Monteiro J; Mendonça D; Ramos EM; Barros J; Sequeiros J; Alonso I; Sousa A. "Evidence of syntaxin 1A involvement
in migraine susceptibility: a Portuguese study.". Archives of neurology (2010): http://europepmc.org/abstract/med/20385907.
10.1001/archneurol.2010.37
- Castro MJ; Stam AH; Lemos C; de Vries B; Vanmolkot KR; Barros J; Terwindt GM; et al. "First mutation in the voltage-gated
Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.". Cephalalgia : an international
journal of headache (2009): http://europepmc.org/abstract/med/19220312.
10.1111/j.1468-2982.2008.01721.x
- Lemos C; Castro MJ; Barros J; Sequeiros J; Pereira-Monteiro J; Mendonça D; Sousa A. "Familial clustering of migraine: further
evidence from a Portuguese study.". Headache (2008): http://europepmc.org/abstract/med/18624713.
10.1111/j.1526-4610.2008.01177.x
- Castro MJ; Nunes B; de Vries B; Lemos C; Vanmolkot KR; van den Heuvel JJ; Temudo T; et al. "Two novel functional mutations
in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological
phenotypes.". Clinical genetics (2007): http://europepmc.org/abstract/med/18028456.
10.1111/j.1399-0004.2007.00918.x
- Castro MJ; Stam AH; Lemos C; Barros J; Gouveia RG; Martins IP; Koenderink JB; et al. "Recurrent ATP1A2 mutations in Portuguese
families with familial hemiplegic migraine.". Journal of human genetics (2007): http://europepmc.org/abstract/med/17952365.
10.1007/s10038-007-0205-7
- Costa MDC; Teixeira-Castro A; Constante M; Magalhães M; Magalhães P; Cerqueira J; Vale J; et al. "Exclusion of mutations in
the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like
phenotype.". Journal of human genetics (2006): http://europepmc.org/abstract/med/16858508.
10.1007/s10038-006-0001-9
- Alonso I; Barros J; Tuna A; Seixas A; Coutinho P; Sequeiros J; Silveira I. "A novel R1347Q mutation in the predicted voltage
sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic
migraine.". Clinical genetics (2004): http://europepmc.org/abstract/med/15032980.
10.1111/j..2004.00187.x
- Alonso I; Barros J; Tuna A; Coelho J; Sequeiros J; Silveira I; Coutinho P. "Phenotypes of spinocerebellar ataxia type 6 and
familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.". Archives of
neurology (2003): http://europepmc.org/abstract/med/12707077.
10.1001/archneur.60.4.610
- Silveira I; Miranda C; Guimarães L; Moreira MC; Alonso I; Mendonça P; Ferro A; et al. "Trinucleotide repeats in 202 families
with ataxia: a small expanded (CAG)n allele at the SCA17 locus.". Archives of neurology (2002): http://europepmc.org/abstract/med/11939898.
10.1001/archneur.59.4.623
- Maciel P; Costa MC; Ferro A; Rousseau M; Santos CS; Gaspar C; Barros J; et al. "Improvement in the molecular diagnosis of
Machado-Joseph disease.". Archives of neurology (2001): http://europepmc.org/abstract/med/11708990.
10.1001/archneur.58.11.1821
- Moreira MC; Barbot C; Tachi N; Kozuka N; Uchida E; Gibson T; Mendonça P; et al. "The gene mutated in ataxia-ocular apraxia
1 encodes the new HIT/Zn-finger protein aprataxin.". Nature genetics (2001): http://europepmc.org/abstract/med/11586300.
10.1038/ng1001-189
- Barbot C; Coutinho P; Chorão R; Ferreira C; Barros J; Fineza I; Dias K; et al. "Recessive ataxia with ocular apraxia: review
of 22 Portuguese patients.". Archives of neurology (2001): http://europepmc.org/abstract/med/11176957.
10.1001/archneur.58.2.201
- Moreira MC; Barbot C; Tachi N; Kozuka N; Mendonça P; Barros J; Coutinho P; Sequeiros J; Koenig M. "Homozygosity mapping of
Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.". American
journal of human genetics (2001): http://europepmc.org/abstract/med/11170899.
10.1086/318191
- Silveira I; Alonso I; Guimarães L; Mendonça P; Santos C; Maciel P; Fidalgo De Matos JM; et al. "High germinal instability
of the (CTG)n at the SCA8 locus of both expanded and normal alleles.". American journal of human genetics (2000): http://europepmc.org/abstract/med/10712199.
10.1086/302827
- Coutinho P; Barros J; Zemmouri R; Guimarães J; Alves C; Chorão R; Lourenço E; et al. "Clinical heterogeneity of autosomal
recessive spastic paraplegias: analysis of 106 patients in 46 families.". Archives of neurology (1999): http://europepmc.org/abstract/med/10448799.
10.1001/archneur.56.8.943
- Sousa A; Coelho T; Barros J; Sequeiros J. "Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa
do Varzim and Vila do Conde (north of Portugal).". American journal of medical genetics (1995): http://europepmc.org/abstract/med/8825887.
10.1002/ajmg.1320600606
- Nunes, B.; Barros, J.; Correia, M.; Lopes, J.C.. "Epilepsy and cerebrovascular diseases in an outpatient clinic". Cerebrovascular
Diseases 4 2 (1994): 96-100. http://www.scopus.com/inward/record.url?eid=2-s2.0-0141860486&partnerID=MN8TOARS.
10.1159/000108460
|
