المؤلفون: Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2476-2482 (2020)

مصطلحات موضوعية: homozygosity mapping, MYO7A, NEB, Nebulin‐associated myopathy, Usher syndrome, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/f75c94edd07a4f6a98db04deb6d7e5fe

المؤلفون: Céline S. Gonçalves, Ana Xavier‐Magalhães, Eduarda P. Martins, Afonso A. Pinto, Manuel Melo Pires, Célia Pinheiro, Rui M. Reis, Nuno Sousa, Bruno M. Costa

المصدر: Molecular Oncology, Vol 14, Iss 6, Pp 1224-1241 (2020)

مصطلحات موضوعية: DNA methylation, glioma, homeobox, HOX, regulation, WNT pathway, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1574-7891; https://doaj.org/toc/1878-0261

URL الوصول: https://doaj.org/article/fa74f01d1f1e42508e145bf7796c505e

المؤلفون: Rita Rodrigues, Mariana Branco, Renata Silva, Luís Ruano, Luís Fontão, Marta Lopes, Horácio Scigliano, Ricardo Taipa, Manuel Melo Pires, Catarina Santos

المصدر: eNeurologicalSci, Vol 21, Iss , Pp 100272- (2020)

مصطلحات موضوعية: Multiple mononeuropathy, Acquired polyneuropathy, Systemic vasculitis, Neuropathology, Nerve biopsy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405650220300514; https://doaj.org/toc/2405-6502

URL الوصول: https://doaj.org/article/5fb62eeb27224fa3957b2a4145b2a00b

المؤلفون: Andreia Veiga, Alexandre Costa, Ricardo Taipa, António Guimarães, Manuel Melo Pires

المصدر: Acta Médica Portuguesa, Vol 28, Iss 3 (2015)

مصطلحات موضوعية: Doenças do Sistema Nervoso Periférico, Lepra, Portugal., Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/5876; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

URL الوصول: https://doaj.org/article/8550dfacc8184185821c17ffa742584f

المؤلفون: Ana Martins Silva, Manuel Melo Pires, Antonio J Bastos Leite, Mrinalini Honavar, Alexandre Mendes, Manuel Correia, Manuel Nora, Mário Rui Silva, Manuela Costa, Antonio Guimarães, Luís Monteiro

المصدر: Arquivos de Neuro-Psiquiatria, Vol 61, Iss 4, Pp 950-956 (2003)

مصطلحات موضوعية: doença de Creutzfeldt-Jakob, demência, neuropatologia, proteina priônica (PrP), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600012&tlng=pt; http://www.scielo.br/pdf/anp/v61n4/a12v61n4.pdf; https://doaj.org/toc/1678-4227

URL الوصول: https://doaj.org/article/0c35f22721764c19b363ecae74baf0dc

المؤلفون: Nuno Maia, Maria João Nabais Sá, Manuel Melo-Pires, Arjan P. M. de Brouwer, Paula Jorge

المصدر: BMC Genomics, Vol 22, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: Neurodevelopmental disorders, Intellectual disability, Massive parallel sequencing, Variant filtering, Variant prioritization, Animal and cellular modelling, Biotechnology, TP248.13-248.65, Genetics, QH426-470

Relation: https://doi.org/10.1186/s12864-021-08227-4; https://doaj.org/toc/1471-2164; https://doaj.org/article/0a4d4fd750a641f78178fc03356d28d2

الاتاحة: https://doi.org/10.1186/s12864-021-08227-4
https://doaj.org/article/0a4d4fd750a641f78178fc03356d28d2

المؤلفون: Ricardo Taipa, Luísa Sousa, Miguel Pinto, Inês Reis, Aurora Rodrigues, Pedro Oliveira, Manuel Melo-Pires, Teresa Coelho

المصدر: Acta Neuropathologica. 145:113-126

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::217ee2eb48c1b0a9849293a09bddc038
https://doi.org/10.1007/s00401-022-02501-9

المؤلفون: Nuno Maia, Gabriela Soares, Cecília Silva, Isabel Marques, Bárbara Rodrigues, Rosário Santos, Manuel Melo-Pires, Arjan PM de Brouwer, Teresa Temudo, Paula Jorge

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: intellectual disability, Autosomal Recessive Spinocerebellar Ataxia 20, SNX14 gene, cerebellar hypoplasia, exome sequencing, complex genomic rearrangement, Genetics, QH426-470

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.01038/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/7dcc05e669a64345b8af9e5218a42811

الاتاحة: https://doi.org/10.3389/fgene.2020.01038
https://doaj.org/article/7dcc05e669a64345b8af9e5218a42811

المؤلفون: Rui M. Reis, José M. Lopes, Pedro Oliveira, Ernesto Carvalho, Célia Pinheiro, Manuel Melo Pires, Carlos Alegria, Rui Almeida, Rui Nabiço, Júlia Amorim, Fernando Pardal, Ana Silva, Paula Soares, Jorge Lima, Céline Pinheiro, Rui Vaz, Paulo Linhares, Sandra Costa, Ricardo Fernandes, Marta Viana-Pereira, Bruno Marques Costa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::041120db05cad58d0abc4e158f276c9d
https://doi.org/10.1158/1055-9965.22435635

المؤلفون: Rui M. Reis, José M. Lopes, Pedro Oliveira, Ernesto Carvalho, Célia Pinheiro, Manuel Melo Pires, Carlos Alegria, Rui Almeida, Rui Nabiço, Júlia Amorim, Fernando Pardal, Ana Silva, Paula Soares, Jorge Lima, Céline Pinheiro, Rui Vaz, Paulo Linhares, Sandra Costa, Ricardo Fernandes, Marta Viana-Pereira, Bruno Marques Costa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98218cc59b7333b3ebc4ca6ddc06009b
https://doi.org/10.1158/1055-9965.c.6515025

المؤلفون: Rui M. Reis, José M. Lopes, Pedro Oliveira, Ernesto Carvalho, Célia Pinheiro, Manuel Melo Pires, Carlos Alegria, Rui Almeida, Rui Nabiço, Júlia Amorim, Fernando Pardal, Ana Silva, Paula Soares, Jorge Lima, Céline Pinheiro, Rui Vaz, Paulo Linhares, Sandra Costa, Ricardo Fernandes, Marta Viana-Pereira, Bruno Marques Costa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74665c50d45ec01ee66e9bc4ec2760fc
https://doi.org/10.1158/1055-9965.22435638

المؤلفون: Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos

المصدر: Genes; Volume 8; Issue 10; Pages: 253

مصطلحات موضوعية: Becker muscular dystrophy, cDNA, DMD, Dystrophin, LINE-1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes8100253

الاتاحة: https://doi.org/10.3390/genes8100253

المؤلفون: Sónia Pires Celeiro, Júlia Amorim, José Pimentel, Filipe Pinto, José Manuel Lopes, Márcia Santos Pereira, Célia Pinheiro, Gisele Caravina de Almeida, Paulo J. Costa, Rui Manuel Reis, Mrinalini Honavar, Manuel Melo Pires, Chris Jones, Ângela Margarida Costa, Marta Viana-Pereira, Sergey Popov

المصدر: Cellular Oncology. 43:107-121

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, Proteases, MMP2, Adolescent, Cell Survival, Matrix Metalloproteinase Inhibitors, Biology, Hydroxamic Acids, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Cell Line, Tumor, Glioma, medicine, Humans, Sulfones, Child, Promoter Regions, Genetic, Aged, Cell Proliferation, Aged, 80 and over, Metalloproteinase, Gene knockdown, Membrane Glycoproteins, Infant, Newborn, Infant, Cell migration, General Medicine, DNA Methylation, Middle Aged, medicine.disease, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Oncology, Child, Preschool, Gene Knockdown Techniques, 030220 oncology & carcinogenesis, DNA methylation, Cancer research, Matrix Metalloproteinase 2, Molecular Medicine, Immunohistochemistry, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de4d640136f55d5ba0fd0842e37c4802
https://doi.org/10.1007/s13402-019-00475-7

المؤلفون: Ernesto Carvalho, Alfredo Calheiros, Célia Pinheiro, Carolina Noronha, Gonçalo Cerdeira Figueiredo, Manuel Melo Pires, Ricardo Taipa

المصدر: Acta Neurochirurgica. 161:1139-1147

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurology, Biopsy, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, medicine, Humans, Neuroradiology, Observer Variation, medicine.diagnostic_test, business.industry, Progressive multifocal leukoencephalopathy, Brain biopsy, Brain, Astrocytoma, Interventional radiology, medicine.disease, Female, Surgery, Neurology (clinical), Radiology, Neurosurgery, Nervous System Diseases, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417a7f655a4e5a1802960c3cfa2ccb5b
https://doi.org/10.1007/s00701-019-03910-8

المؤلفون: Jorge Pinto Basto, Manuel Melo Pires, Pedro M. Barros, Ricardo Taipa, Andreia F. Carvalho, Joana Nunes

المصدر: Neurological Sciences.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Leukodystrophy, Dysautonomia, Dermatology, General Medicine, Adult polyglucosan body disease, medicine.disease, Compound heterozygosity, 03 medical and health sciences, Psychiatry and Mental health, Orthostatic vital signs, 0302 clinical medicine, Peripheral neuropathy, Genotype, medicine, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::32f13c1e64e1afdee12fa0d83b61f32a
https://doi.org/10.1007/s10072-021-05096-3

المؤلفون: Filipa Flor-de-Lima, Liliana Macedo, Ricardo Taipa, Manuel Melo-Pires, Maria Lurdes Rodrigues

المصدر: Case Reports in Pediatrics, Vol 2013 (2013)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6803; https://doaj.org/toc/2090-6811

URL الوصول: https://doaj.org/article/2b244626f835474194ba975fa1a4ad95

المؤلفون: Luís Fontão, Catarina Santos, Luis Ruano, Renata Silva, Manuel Melo Pires, M. N. Lopes, Horacio Scigliano, Ricardo Taipa, Rita Rodrigues, Mariana Branco

المصدر: eNeurologicalSci
eNeurologicalSci, Vol 21, Iss, Pp 100272-(2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: medicine.medical_specialty, Multiple mononeuropathy, Case Report, Nerve biopsy, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, medicine, Systemic vasculitis, Outpatient clinic, Acquired polyneuropathy, 030212 general & internal medicine, lcsh:Neurology. Diseases of the nervous system, Neuropathology, medicine.diagnostic_test, business.industry, Polyarteritis nodosa, medicine.disease, Dermatology, Peripheral neuropathy, Neurology, Granulomatosis with polyangiitis, Vasculitis, business, Microscopic polyangiitis, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbfa0869dbc6da38f89a0e2b91d368a1
https://hdl.handle.net/10400.16/2590

المؤلفون: Catarina Mendes Pinto, Gonçalo Videira, Manuel Melo-Pires, Ricardo Taipa, Joana Damásio

المصدر: Movement disorders : official journal of the Movement Disorder Society. 35(11)

مصطلحات موضوعية: medicine.medical_specialty, Brain Mapping, Letter to the editor, business.industry, Brain, medicine.disease, Progressive supranuclear palsy, Physical medicine and rehabilitation, Neurology, Supranuclear palsy, medicine, Humans, Neurology (clinical), Supranuclear Palsy, Progressive, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26cef53534d72c5b9db0abe18412888d
https://pubmed.ncbi.nlm.nih.gov/33463744

المؤلفون: Andreia, Carvalho, Joana, Nunes, Ricardo, Taipa, Manuel, Melo Pires, Jorge, Pinto Basto, Pedro, Barros

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 42(7)

مصطلحات موضوعية: Adult, Homozygote, Mutation, Humans, Female, Glycogen Debranching Enzyme System, Middle Aged, Nervous System Diseases, Glycogen Storage Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fbe56bf8fa0ae4c19fe7b35e5f47eacb
https://pubmed.ncbi.nlm.nih.gov/33517539

المؤلفون: Lúcia Costa, Manuel Melo-Pires, Sara Ganhão, Eva Mariz, Ricardo Taipa

المصدر: Revista Colombiana de Reumatología. 27:65-67

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, business.industry, Myoglobinuria, General Medicine, Exercise intolerance, medicine.disease, Rheumatology, Myophosphorylase, Internal medicine, medicine, Outpatient clinic, Glycogen storage disease, medicine.symptom, business, Anaerobic exercise, Glycogen storage disease type V, Muscle cramp

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c680d40ea140656a413658e3aae1820d
https://doi.org/10.1016/j.rcreu.2019.03.003