Artigo em revista |
- Martins, Joana; Darling, Alejandra; Garrido, Cristina; Espinós, Carmen; Martí, María José; Dueñas, Belen Pérez; Temudo, Teresa.
"Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients". Movement Disorders
Clinical Practice 6 8 (2019): 704-707. http://dx.doi.org/10.1002/mdc3.12842.
10.1002/mdc3.12842
- Melo, Cláudia; Ruano, Luís; Jorge, Joana; Pinto Ribeiro, Tiago; Oliveira, Guiomar; Azevedo, Luís; Temudo, Teresa. "Prevalence
and determinants of motor stereotypies in autism spectrum disorder: A systematic review and meta-analysis". Autism
24 3 (2019): 569-590. http://dx.doi.org/10.1177/1362361319869118.
10.1177/1362361319869118
- Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; et al. "Genomic
imbalances defining novel intellectual disability associated loci". Orphanet Journal of Rare Diseases 14 1 (2019):
http://dx.doi.org/10.1186/s13023-019-1135-0.
10.1186/s13023-019-1135-0
- Darling, Alejandra; Aguilera-Albesa, Sergio; Tello, Cristina Aisha; Serrano, Mercedes; Tomás, Miguel; Camino-León, Rafael;
Fernández-Ramos, Joaquín; et al. "PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression".
Parkinsonism & Related Disorders 61 (2019): 179-186. http://dx.doi.org/10.1016/j.parkreldis.2018.10.013.
10.1016/j.parkreldis.2018.10.013
- Darling, Alejandra; Tello, Cristina; Martí, María Josep; Garrido, Cristina; Aguilera-Albesa, Sergio; Tomás Vila, Miguel; Gastón,
Itziar; et al. "Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study". Movement Disorders
32 11 (2017): 1620-1630. http://dx.doi.org/10.1002/mds.27129.
10.1002/mds.27129
- Lopes, Fátima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela; de Sá, Joaquim; Dias, Ana Isabel; Oliveira, Guiomar; et al.
"Identification of novel genetic causes of Rett syndrome-likephenotypes". Journal of Medical Genetics 53 3 (2016):
190-199. http://dx.doi.org/10.1136/jmedgenet-2015-103568.
10.1136/jmedgenet-2015-103568
- Vieira, José Pedro; Lopes, Fátima; Silva-Fernandes, Anabela; Sousa, Maria Vânia; Moura, Sofia; Sousa, Susana; Costa, Bruno
M.; et al. "Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression
of the MECP2
gene". International Journal of Developmental Neuroscience 46 C (2015): 82-87. http://dx.doi.org/10.1016/j.ijdevneu.2015.07.010.
10.1016/j.ijdevneu.2015.07.010
- Patterson, Marc C; Mengel, Eugen; Vanier, Marie T; Schwierin, Barbara; Muller, Audrey; Cornelisse, Peter; Pineda, Mercè. "Stable
or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick
disease type C: an observational cohort study". Orphanet Journal of Rare Diseases 10 1 (2015): http://dx.doi.org/10.1186/s13023-015-0284-z.
10.1186/s13023-015-0284-z
- Monteiro, T.; Garrido, C.; Pina, S.; Chorão, R.; Carrilho, I.; Figueiroa, S.; Santos, M.; Temudo, T.. "Esclerosis tuberosa:
caracterización clínica e intento de correlación fenotipo/genotipo". Anales de Pediatría 81 5 (2014): 289-296. http://dx.doi.org/10.1016/j.anpedi.2014.03.022.
10.1016/j.anpedi.2014.03.022
- Barros, Pedro; Brito, Hernâni; Ferreira, Paula Cristina; Ramalheira, João; Lopes, João; Rangel, Rui; Temudo, Teresa; Figueiroa,
Sónia. "Resective surgery in the treatment of super-refractory partial status epilepticus secondary to NMDAR antibody encephalitis".
European Journal of Paediatric Neurology 18 3 (2014): 449-452. http://dx.doi.org/10.1016/j.ejpn.2014.01.013.
10.1016/j.ejpn.2014.01.013
- Rios, M.; Barbot, C.; Pinto, P.S.; Salício, L.; Santos, M.; Carrilho, I.; Temudo, T.. "Síndrome de Sturge-Weber: variabilidad
clínica y de neuroimagen". Anales de Pediatría 77 6 (2012): 397-402. http://dx.doi.org/10.1016/j.anpedi.2012.03.004.
10.1016/j.anpedi.2012.03.004
- Goldman, Sylvie; Temudo, Teresa. "Hand stereotypies distinguish Rett syndrome from autism disorder". Movement Disorders
27 8 (2012): 1060-1062. http://dx.doi.org/10.1002/mds.25057.
10.1002/mds.25057
- Fasano, Alfonso; Ricciardi, Lucia; Bentivoglio, Anna Rita; Canavese, Carlotta; Zorzi, Giovanna; Petrovic, Igor; Kresojevic,
Nikola; et al. "Status dystonicus: Predictors of outcome and progression patterns of underlying disease". Movement Disorders
27 6 (2012): 783-788. http://dx.doi.org/10.1002/mds.24981.
10.1002/mds.24981
- Temudo, Teresa; Santos, Mónica; Ramos, Elisabete; Dias, Karin; Vieira, José Pedro; Moreira, Ana; Calado, Eulália; et al. "Rett
syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes". Brain and Development 33 1
(2011): 69-76. http://dx.doi.org/10.1016/j.braindev.2010.01.004.
10.1016/j.braindev.2010.01.004
- Pineda, M.; Perez-Poyato, M.S.; O’Callaghan, M.; Vilaseca, M.A.; Pocovi, M.; Domingo, R.; Ruiz Portal, L.; et al. "Clinical
experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series". Molecular Genetics
and Metabolism 99 4 (2010): 358-366. http://dx.doi.org/10.1016/j.ymgme.2009.11.007.
10.1016/j.ymgme.2009.11.007
- Prior, C.; Nunes, A.; Rios, M.; Sequeiros, J.; Maciel, P.; Gomes, L.; Temudo, T.. "Trastornos nutricionales y gastrointestinales
en el síndrome de Rett: importancia de la intervención temprana". Anales de Pediatría 72 3 (2010): 191-198. http://dx.doi.org/10.1016/j.anpedi.2009.02.007.
10.1016/j.anpedi.2009.02.007
- Vieira, J.P.; Luis, C.; Monteiro, J.P.; Temudo, T.; Campos, M.M.; Quintas, S.; Nunes, S.. "Cerebral sinovenous thrombosis
in children: Clinical presentation and extension, localization and recanalization of thrombosis". European Journal of Paediatric
Neurology 14 1 (2010): 80-85. http://dx.doi.org/10.1016/j.ejpn.2008.12.004.
10.1016/j.ejpn.2008.12.004
- Santos, Mónica; Temudo, Teresa; Kay, Teresa; Carrilho, Inês; Medeira, Ana; Cabral, Helena; Gomes, Roseli; et al. "Mutations
in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients". Journal
of Child Neurology 24 1 (2009): 49-55. http://dx.doi.org/10.1177/0883073808321043.
10.1177/0883073808321043
- Temudo, T.; Rios, M.; Prior, C.; Carrilho, I.; Santos, M.; Maciel, P.; Sequeiros, J.; et al. "Evaluation of CSF neurotransmitters
and folate in 25 patients with Rett disorder and effects of treatment". Brain and Development 31 1 (2009): 46-51. http://dx.doi.org/10.1016/j.braindev.2008.05.003.
10.1016/j.braindev.2008.05.003
- Temudo, Teresa; Ramos, Elisabete; Dias, Karin; Barbot, Clara; Vieira, Jose P.; Moreira, Ana; Calado, Eulalia; et al. "Movement
disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type". Movement
Disorders 23 10 (2008): 1384-1390. http://dx.doi.org/10.1002/mds.22115.
10.1002/mds.22115
- Temudo, Teresa; Freitas, Paula; Sequeiros, Jorge; Maciel, Patricia; Oliveira, Guiomar. "Atypical stereotypies and vocal tics
in Rett syndrome: An illustrative case". Movement Disorders 23 4 (2008): 622-624. http://dx.doi.org/10.1002/mds.21939.
10.1002/mds.21939
- Santos, Mónica; Yan, Jin; Temudo, Teresa; Oliveira, Guiomar; Vieira, José Pedro; Fen, Jinong; Sommer, Steve; Maciel, Patrícia.
"Analysis of Highly Conserved Regions of the 3’UTR ofMECP2Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other
Disorders Associated with Mental Retardation". Disease Markers 24 6 (2008): 319-324. http://dx.doi.org/10.1155/2008/738401.
10.1155/2008/738401
- Castro, M-J; Nunes, B; De Vries, B; Lemos, C; Vanmolkot, KRJ; Van Den Heuvel, JJMW; Temudo, T; et al. "Two novel functional
mutations in the Na+,K+-ATPase a2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological
phenotypes". Clinical Genetics 73 1 (2007): 37-43. http://dx.doi.org/10.1111/j.1399-0004.2007.00918.x.
10.1111/j.1399-0004.2007.00918.x
- Ramaekers, V.; Sequeira, J.; Artuch, R.; Blau, N.; Temudo, T.; Ormazabal, A.; Pineda, M.; et al. "Folate Receptor Autoantibodies
and Spinal Fluid 5-Methyltetrahydrofolate Deficiency in Rett Syndrome". Neuropediatrics 38 4 (2007): 179-183. http://dx.doi.org/10.1055/s-2007-991148.
10.1055/s-2007-991148
- Marini, Carla; Mei, Davide; Temudo, Teresa; Ferrari, Anna Rita; Buti, Daniela; Dravet, Charlotte; Dias, Ana I.; et al. "Idiopathic
Epilepsies with Seizures Precipitated by Fever and SCN1A
Abnormalities". Epilepsia 48 9 (2007): 1678-1685. http://dx.doi.org/10.1111/j.1528-1167.2007.01122.x.
10.1111/j.1528-1167.2007.01122.x
- Temudo, T.; Oliveira, P.; Santos, M.; Dias, K.; Vieira, J.; Moreira, A.; Calado, E.; et al. "Stereotypies in Rett syndrome:
Analysis of 83 patients with and without detected MECP2 mutations". Neurology 68 15 (2007): 1183-1187. http://dx.doi.org/10.1212/01.wnl.0000259086.34769.78.
10.1212/01.wnl.0000259086.34769.78
- Catarina Prior, A.; Tavares, S.; Figueiroa, S.; Temudo, T.. "Tics en niños y adolescentes: análisis retrospectivo de 78 casos".
Anales de Pediatría 66 2 (2007): 129-134. http://dx.doi.org/10.1157/13098929.
10.1157/13098929
- Temudo, Teresa; Maciel, Patricia; Sequeiros, Jorge. "Abnormal movements in Rett syndrome are present before the regression
period: A case study". Movement Disorders 22 15 (2007): 2284-2287. http://dx.doi.org/10.1002/mds.21744.
10.1002/mds.21744
- Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile; Feng, Jinong; Yan, Jin; Yang, Chunmei; Marques, Carla; et al. "MECP2 coding
sequence and 3'UTR variation in 172 unrelated autistic patients". American Journal of Medical Genetics Part B: Neuropsychiatric
Genetics 144B 4 (2007): 475-483. http://dx.doi.org/10.1002/ajmg.b.30490.
10.1002/ajmg.b.30490
- Temudo, Teresa. "Rolandic epilepsy. An analysis of the clinical and electrophysiological characteristics, treatment and prognosis
in 87 patients". Revista de Neurología (2005):
- Shi, Jinxiu; Shibayama, Akane; Liu, Qiang; Nguyen, Vu Q.; Feng, Jinong; Santos, M¿nica; Temudo, Teresa; Maciel, Patricia;
Sommer, Steve S.. "Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage
PCR (RD-PCR)". Human Mutation 25 5 (2005): 505-505. http://dx.doi.org/10.1002/humu.9338.
10.1002/humu.9338
- Temudo, Teresa. "Movement disorders in Rett syndrome". Revista de Neurología (2005):
- Temudo, Teresa; Martins, Esmeralda; Poças, Fátima; Cruz, Romeu; Vilarinho, Laura. "Maple syrup disease presenting as paroxysmal
dystonia". Annals of Neurology 56 5 (2004): 749-750. http://dx.doi.org/10.1002/ana.20288.
10.1002/ana.20288
- Temudo, Teresa. "Schilder's disease: two new cases and a review of the literature". Revista de Neurología (2004):
- Temudo, Teresa. "Paroxysmal dyskinesias in children". Revista de Neurología (2004):
- Temudo, Teresa; Espinheira de Sá Maciel, Patricia. "Síndrome de Rett. Características clínicas y avances genéticos". Revista
de Neurología 34 S1 (2002): 54. http://dx.doi.org/10.33588/rn.34s1.2002031.
10.33588/rn.34s1.2002031
- Moreira Ramos, Sandra María; Padrao Temudo, Teresa. "Síndrome de opsoclono-mioclono: ¿hasta cuándo seguir investigando?".
Revista de Neurología 35 04 (2002): 322. http://dx.doi.org/10.33588/rn.3504.2000403.
10.33588/rn.3504.2000403
- Cunha, Joaquim; Madalena, Célia; Azevedo Guimarães, Paulo Fernando; Sousa, Armando; Temudo, Teresa. "Infección por Myoplasma
Pneumoniae: tres casos con complicaciones neurológicas". Revista de Neurología 34 11 (2002): 1053. http://dx.doi.org/10.33588/rn.3411.2001499.
10.33588/rn.3411.2001499
- Garrido, Cristina; Tuna, Assunção; Moreira Ramos, Sandra María; Temudo, Teresa. "Cefalea en racimos en una niña de 3 años".
Revista de Neurología 33 08 (2001): 732. http://dx.doi.org/10.33588/rn.3308.2001051.
10.33588/rn.3308.2001051
- Temudo, Teresa. "X-linked hydrocephalus (Brickers-Adams syndrome). A case report confirmed by molecular genetic studies".
Revista de Neurología (2000):
- Temudo, Teresa. "Status epilepticus in the childhood. A review of seven years". Revista de Neurología (2000):
- Pineda, M; Pavia, C; Vilaseca, M A; Ferrer, I; Temudo, T; Chabas, A; Stibler, H; Jaeken, J. "Normal pubertal development in
a female with carbohydrate deficient glycoprotein syndrome.". Archives of Disease in Childhood 74 3 (1996): 242-243.
http://dx.doi.org/10.1136/adc.74.3.242.
10.1136/adc.74.3.242
- Pineda, Merce; Campistol, Jaume; Vilaseca, M. Antonia; Briones, Paz; Ribes, Antonia; Temudo, Teresa; Pons, Marti; Cusi, Victoria;
Rolland, Marie-Odile. "An atypical French form of pyruvate carboxylase deficiency". Brain and Development 17 4 (1995):
276-279. http://dx.doi.org/10.1016/0387-7604(95)00057-i.
10.1016/0387-7604(95)00057-i
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