Zobrazeno 1 - 10
of 10 990
pro vyhledávání: '"MELAS syndrome"'
Publikováno v:
Journal of Practical Medicine / Shiyong Yixue Zazhi. 7/10/2024, Vol. 40 Issue 13, p1885-1888. 4p.
Autor:
Barros, Camila D. S.1 (AUTHOR) dantas.ca@hotmail.com, Coutinho, Aryane1 (AUTHOR), Tengan, Celia H.1 (AUTHOR) chtengan@unifesp.br
Publikováno v:
International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3629. 12p.
Autor:
Burattini M; Department of Surgery, Dentistry and Maternity, University of Verona, Verona, Italy; TecMedLab, Department of Medicine and Surgery, University of Parma, Parma, Italy., Pisano A; Department of Radiological, Oncological and Pathological Sciences, 'Sapienza' University of Rome, Roma, Italy., Medeghini V; TecMedLab, Department of Medicine and Surgery, University of Parma, Parma, Italy., Rossi S; TecMedLab, Department of Medicine and Surgery, University of Parma, Parma, Italy., Luciani GB; Department of Surgery, Dentistry and Maternity, University of Verona, Verona, Italy., D'Amati G; Department of Radiological, Oncological and Pathological Sciences, 'Sapienza' University of Rome, Roma, Italy., Miragoli M; TecMedLab, Department of Medicine and Surgery, University of Parma, Parma, Italy; Humanitas Research Hospital - IRCCS, Rozzano (Milan), Italy.
Publikováno v:
Vascular pharmacology [Vascul Pharmacol] 2024 Jun; Vol. 155, pp. 107303.
Autor:
Guerrero-Molina MP; Neurology Department, Neuromuscular Disorders Unit, University Hospital, 12 de Octubre Avda. de Córdoba, S/N 28041, Madrid, Spain. maripazguerrero@gmail.com., Bernabeu-Sanz Á; Magnetic Resonance Department, Inscanner SL, Alicant, Spain., Ramos-González A; Department of Neuroradiology, University Hospital, 12 de Octubre, Madrid, Spain., Morales-Conejo M; Department of Internal Medicine, University Hospital, 12 de Octubre, Madrid, Spain.; National Reference Center for Congenital Errors of Metabolism (CSUR) an European Reference Center for Inherited Metabolic Disease (MetabERN), University Hospital, 12 de Octubre, Madrid, Spain.; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain., Delmiro A; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital, 12 de Octubre' ('imas12'), Madrid, Spain.; Research Institute ('imas12'), University Hospital, 12 de Octubre, Madrid, Spain., Domínguez-González C; Neurology Department, Neuromuscular Disorders Unit, University Hospital, 12 de Octubre Avda. de Córdoba, S/N 28041, Madrid, Spain.; National Reference Center for Congenital Errors of Metabolism (CSUR) an European Reference Center for Inherited Metabolic Disease (MetabERN), University Hospital, 12 de Octubre, Madrid, Spain.; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain.; Research Institute ('imas12'), University Hospital, 12 de Octubre, Madrid, Spain., Arenas J; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital, 12 de Octubre' ('imas12'), Madrid, Spain.; Research Institute ('imas12'), University Hospital, 12 de Octubre, Madrid, Spain., Martín MA; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital, 12 de Octubre' ('imas12'), Madrid, Spain.; Research Institute ('imas12'), University Hospital, 12 de Octubre, Madrid, Spain., González de la Aleja J; National Reference Center for Congenital Errors of Metabolism (CSUR) an European Reference Center for Inherited Metabolic Disease (MetabERN), University Hospital, 12 de Octubre, Madrid, Spain.; Neurology Department, Epilepsy Unit, University Hospital, 12 de Octubre, Madrid, Spain.
Publikováno v:
Neuroradiology [Neuroradiology] 2024 Mar; Vol. 66 (3), pp. 389-398. Date of Electronic Publication: 2023 Dec 19.
Autor:
Snyder MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Manor J; Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Kralik SF; Texas Children's Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Emrick L; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63461. Date of Electronic Publication: 2023 Nov 12.
Autor:
Mahesan A; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Kamila G; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Sundaram M; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Kumar A; Radiodiagnosis and Interventional Radiology, AIIMS, New Delhi, India., Jauhari P; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Chakrabarty B; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Gulati S; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Publikováno v:
Neurology India [Neurol India] 2024 May 01; Vol. 72 (3), pp. 645-646. Date of Electronic Publication: 2024 Jun 30.
Autor:
Zhao Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine (Y.Z., Z.X., C.Y.), Shandong University, Jinan, China., Xu Z; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine (Y.Z., Z.X., C.Y.), Shandong University, Jinan, China.; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao) (C.Y., K.J.), Shandong University, Jinan, China., Yan C; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine (Y.Z., Z.X., C.Y.), Shandong University, Jinan, China.; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao) (C.Y., K.J.), Shandong University, Jinan, China.; Brain Science Research Institute (C.Y., K.J.), Shandong University, Jinan, China., Ji K; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao) (C.Y., K.J.), Shandong University, Jinan, China.; Brain Science Research Institute (C.Y., K.J.), Shandong University, Jinan, China.
Publikováno v:
Stroke [Stroke] 2024 Apr; Vol. 55 (4), pp. e127-e130. Date of Electronic Publication: 2024 Feb 16.
Autor:
Casian, Mihnea1,2 (AUTHOR), Dragotoiu, Nic3 (AUTHOR), Onciul, Sebastian2,4 (AUTHOR), Popescu, Bogdan A.2,3 (AUTHOR), Jurcuţ, Ruxandra1,2 (AUTHOR) rjurcut@gmail.com
Publikováno v:
Romanian Journal of Cardiology. Sep2023, Vol. 33 Issue 3, p118-122. 5p.
Autor:
Seed, Lydia M.1 (AUTHOR), Dean, Andrew2,3 (AUTHOR), Krishnakumar, Deepa4 (AUTHOR), Phyu, Poe5 (AUTHOR), Horvath, Rita2 (AUTHOR), Harijan, Pooja Devi4 (AUTHOR) pooja.harijan@addenbrookes.nhs.uk
Publikováno v:
Molecular Genetics & Genomic Medicine. Jul2022, Vol. 10 Issue 7, p1-13. 13p.
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr’s syndrome with “near” sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, exper
Externí odkaz:
https://doaj.org/article/4e7c7dba2ea74759b291f9f85ea96a43