المؤلفون: André Sobral-Pinho, André Jorge, Pedro Fonseca, João Sargento-Freitas, João Durães, Ana Inês Martins, Maria Carmo Macário, João Lemos

المصدر: Journal of Neurology.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d84ce39501264854dca762fb7d4a28a3
https://doi.org/10.1007/s00415-023-11734-x

المؤلفون: Bruno Law-Ye, Nadya Pyatigorskaya, Fausto Viader, Roseline Froissart, Raili Raininko, Antonio Federico, Seung H. Kim, Louis Cousyn, Kiyotaka Nakamagoe, Monique Piraud, Cornelia Laule, Alfonso Cerase, Xavier Ayrignac, Robert Henderson, Simona Salvatore, Delphine Leclercq, Hiroshi Adachi, Yuwei Da, Karol Jastrzębski, Maria Carmo Macário, Sandra Sirrs, João Durães, Rabab Debs, Ludger Schols, Yann Nadjar, Bertrand Audoin, Roberta La Piana

المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biochimie et Biologie Moléculaire Grand Est Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Siena = University of Siena (UNISI), Neuroradiology Unit, Azienda Ospedaliera Universitaria Senese, Siena, Department of Neurology, Coimbra Hospital and University Centre, Department of Neurology, College of Medicine, Hanyang University, Seoul, Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Department of Neurology, La Timone Hospital, Aix-Marseille University, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, University Hospital of Montpellier, Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, Department of Neurology, Royal Brisbane Hospital, Brisbane, Laboratory of Neurogenetics of Motion and Department of Neuroradiology, Montréal Neurological Institute and Hospital, McGill University, Montréal, University of British Columbia (UBC), International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Uppsala University, Department of Neurology and Hertie-Institute for Clinical Brain Research, Eberhard-Karls-University, German Center of Neurodegenerative Diseases (DZNE), Tübingen, Department of Neurology, Caen-Normandie University Hospital, Caen, Inserm U1077, EPHE, Caen-Normandie University, Caen, Department of Neurology and Stroke, Medical University of Lodz

المصدر: Neurology
Neurology, 2019, 93 (7), pp.e647-e652. ⟨10.1212/WNL.0000000000007943⟩
Neurology 93(7), e647-e652 (2019). doi:10.1212/WNL.0000000000007943

مصطلحات موضوعية: Male, 0301 basic medicine, Internal capsule, pathology [Pyramidal Tracts], Pyramidal Tracts, 030105 genetics & heredity, Corpus callosum, Corpus Callosum, methods [Magnetic Resonance Imaging], 0302 clinical medicine, Internal Capsule, pathology [White Matter], Age of Onset, Child, Brain, Middle Aged, Magnetic Resonance Imaging, White Matter, pathology [Corpus Callosum], pathology [Internal Capsule], Female, pathology [Leukodystrophy, Globoid Cell], Radiology, Adult, medicine.medical_specialty, Adolescent, diagnostic imaging [Leukodystrophy, Globoid Cell], Young Adult, 03 medical and health sciences, Corona radiata, medicine, Humans, ddc:610, diagnostic imaging [Brain], Aged, business.industry, Leukodystrophy, Precentral gyrus, medicine.disease, Hyperintensity, Leukodystrophy, Globoid Cell, Corticospinal tract, Krabbe disease, Neurology (clinical), pathology [Demyelinating Diseases], business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Demyelinating Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532b8fb1a9d42ce9e3758c5b41e810e2
https://doi.org/10.1212/wnl.0000000000007943

المؤلفون: Rui Pascoal, Gustavo C. Santo, Joana Ramos-Lopes, João Sargento-Freitas, Maria Carmo-Macário, José Coelho, Carla Nunes, Bruno Rodrigues, Fernando de C. da Silva, Luciano Almendra, Ricardo Varela, Cristina Duque, Fernando Morais Rodrigues, Cristina Machado

المصدر: The neurologist. 26(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, Lacunar stroke, 030204 cardiovascular system & hematology, Brain Ischemia, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, medicine, Humans, cardiovascular diseases, Prospective Studies, Risk factor, Prospective cohort study, Stroke, Aged, Ischemic Stroke, Aged, 80 and over, business.industry, Middle Aged, medicine.disease, Pathophysiology, Clinical trial, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Etiology, lipids (amino acids, peptides, and proteins), Observational study, business, 030217 neurology & neurosurgery, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07a0711ae953f64d62be3e91eee5254
https://pubmed.ncbi.nlm.nih.gov/34734910

المؤلفون: Maria Carmo Macário, João Durães, Ettore Salsano

المصدر: Neurol Clin Pract

مصطلحات موضوعية: Neuroimaging, business.industry, Krabbe disease, Brain mri, MEDLINE, Medicine, Case, Neurology (clinical), business, medicine.disease, Bioinformatics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb850f2a03bcdf7221c616c6be4c5646
https://europepmc.org/articles/PMC8101315/

المؤلفون: Reza Maroofian, Birgit Assmann, Henry Houlden, David Murphy, Tipu Sultan, Mahesh Kamate, Houda Zghal Elloumi, Maria Rosário Almeida, Caroline Neuray, Giacomina Rossi, Sumit Parikh, Javeira Raza Alvi, Isabel Santana, Marcondes C. França, Maria Carmo Macário, Stephanie Efthymiou, Silvana Franceschetti, Matias Wagner, Laura Canafoglia

المصدر: Brain 144:e22 (2021)

مصطلحات موضوعية: Genetics, Phenotype, Homozygote, Mutation, Neurology (clinical), Biology, Allele, Alleles, Early onset

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7165ab3137931fc57dcb8294c1d250e2
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60968

المؤلفون: Maria Carmo Macário, Isabel Tavares de Almeida, Cristina Florindo, Daniela Vieira

المصدر: BMJ Case Rep

مصطلحات موضوعية: 0301 basic medicine, Gait Ataxia, Male, Hyperhomocysteinemia, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Homocysteine, Methylenetetrahydrofolate reductase deficiency, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Folic Acid, Rare Disease, Internal medicine, Tremor, medicine, Humans, Vitamin B12, Age of Onset, Methylenetetrahydrofolate Reductase (NADPH2), biology, business.industry, Dysarthria, General Medicine, medicine.disease, Hypotonia, Betaine, Vitamin B 12, 030104 developmental biology, Endocrinology, chemistry, Psychotic Disorders, Muscle Spasticity, Methylenetetrahydrofolate reductase, Failure to thrive, biology.protein, Homocystinuria, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a918a71e13c1c24253192ed7f42176bf
https://pubmed.ncbi.nlm.nih.gov/32161077

المؤلفون: Miguel Pereira, João Durães, Maria Carmo Macário

المصدر: Practical neurology. 20(3)

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Pes cavus, Ataxia, Neurological examination, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Unverricht-Lundborg Syndrome, medicine, Humans, Renal Insufficiency, Myoclonic Cerebellar Dyssynergia, medicine.diagnostic_test, business.industry, Limb ataxia, Siblings, General Medicine, Hyporeflexia, medicine.disease, Myoclonic Epilepsies, Progressive, Hypotonia, nervous system diseases, Pedigree, Transplantation, Female, Neurology (clinical), medicine.symptom, business, Myoclonus, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626e1acb03e0929851b2df575f2281a5
https://pubmed.ncbi.nlm.nih.gov/32161095

المؤلفون: Margarida Gonçalo, Maria Carmo Macário, Lívia Sousa, João Durães

المصدر: Multiple Sclerosis and Related Disorders. 30:244-246

مصطلحات موضوعية: Adult, Vasculitis, medicine.medical_specialty, Multiple Sclerosis, Urticaria, Hypocomplementemic urticarial vasculitis, Case presentation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Immunologic Factors, 030212 general & internal medicine, Urticarial vasculitis, Adverse effect, business.industry, Multiple sclerosis, General Medicine, medicine.disease, Dermatology, Clinical Practice, Neurology, Female, Rituximab, Neurology (clinical), Presentation (obstetrics), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bdb305edf1fe76849cce360ba087b40
https://doi.org/10.1016/j.msard.2019.02.020

المؤلفون: Joana Jesus-Ribeiro, Maria Carmo Macário, Orlando Galego, Lívia Sousa, Inês Correia, Inês Marques, Carla Nunes, Ana I. Martins, Sónia Batista, Luís Cunha

المصدر: International Immunopharmacology. 46:105-111

مصطلحات موضوعية: Adult, Male, Risk, medicine.medical_specialty, Adolescent, Immunology, Cohort Studies, Young Adult, 03 medical and health sciences, Multiple Sclerosis, Relapsing-Remitting, 0302 clinical medicine, Natalizumab, Internal medicine, medicine, Humans, Immunology and Allergy, 030212 general & internal medicine, Retrospective Studies, Pharmacology, Expanded Disability Status Scale, Portugal, medicine.diagnostic_test, business.industry, Multiple sclerosis, Progressive multifocal leukoencephalopathy, Leukoencephalopathy, Progressive Multifocal, Brain, Magnetic resonance imaging, Retrospective cohort study, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Surgery, Withholding Treatment, Cohort, Female, business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae883999d7d76b06d6809bbbb31c6505
https://doi.org/10.1016/j.intimp.2017.03.006

المؤلفون: Maria Carmo Macário, Maria João Santos, Marta Simões, Luísa Diogo, Mafalda Bacalhau, Manuela Grazina, Cândida Mendes, João Pratas, Carolina Ribeiro

المصدر: European Journal of Medical Genetics. 60:172-177

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Adolescent, In silico, Kearns-Sayre Syndrome, Biology, medicine.disease_cause, DNA, Mitochondrial, Electron Transport, Kearns–Sayre syndrome, 03 medical and health sciences, Mitochondrial myopathy, Genetic variation, Genetics, medicine, Humans, Computer Simulation, Child, Gene, Genetics (clinical), Mutation, Base Sequence, Genetic Variation, Mitochondrial Myopathies, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, Mitochondria, 030104 developmental biology, Mitochondrial respiratory chain, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::406c4c73f4426147644c60cacf9155ac
https://doi.org/10.1016/j.ejmg.2016.12.009