Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries

Autor: Catarina Falcão de Campos, Marta Gromicho, Hilmi Uysal, Julian Grosskreutz, Magdalena Kuzma-Kozakiewicz, Miguel Oliveira Santos, Susana Pinto, Susanne Petri, Michael Swash, Mamede de Carvalho

Publikováno v: Frontiers in Neurology, Vol 13 (2023)

BackgroundAmyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with a median survival of 2–5 years. An early diagnosis is essential for providing ALS patients the finest management possible. Studies from different

Externí odkaz: https://doaj.org/article/be9d5e7bb0c84084904eba0f3b1d402d

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands

Autor: Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho

Publikováno v: Case Reports in Neurological Medicine, Vol 2019 (2019)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cac

Externí odkaz: https://doaj.org/article/551261a9265a4854975968b43672d969

Comment on 'Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands'

Autor: Isabel Conceição, Miguel Oliveira Santos, Rafael Roque, Mamede de Carvalho, Catarina Falcão de Campos

Publikováno v: Case Reports in Neurological Medicine
Case Reports in Neurological Medicine, Vol 2019 (2019)
Case Reports in Neurological Medicine, Vol 2021 (2021)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d21547ad3abdbb16ef64286689220a2
http://europepmc.org/articles/PMC7937477

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum

Autor: Catarina Falcão de Campos, Mamede de Carvalho

Publikováno v: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 64

Distal myopathies are a clinically and genetically heterogeneous group characterized by distal weakness at onset. Distal myopathies are classified according to age of onset, inheritance pattern, clinical features and molecular diagnosis. Inclusion bo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b05700d3d921043ac9806eeafb8d5c9d
https://pubmed.ncbi.nlm.nih.gov/30955949

Loss of object ownership feeling following a left hemisphere infarct

Autor: Pedro Nascimento Alves, Carolina Maruta, Graça Sá, Ana Catarina Fonseca, Sofia Reimão, Isabel Pavão Martins, Luz Rocha, Catarina Falcão de Campos

Publikováno v: Cortex. 84:132-134

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cea05acb0e125e0efd6321d4b5c21fd
https://doi.org/10.1016/j.cortex.2016.06.021