Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Maria, Kinali"'
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-10 (2018)
Abstract Autism spectrum disorder (ASD) is characterised by the concomitant occurrence of impaired social interaction; restricted, perseverative and stereotypical behaviour; and abnormal communication skills. Recent epidemiological studies have repor
Externí odkaz:
https://doaj.org/article/5f4ae6f572ca41b4bb9ba7f96f1a3d2c
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Mutations in the PARK2 gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive dystoni
Externí odkaz:
https://doaj.org/article/e994b5e6111e47dfb8210ae8f079848b
Publikováno v:
Case Reports in Pediatrics, Vol 2019 (2019)
Background. PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phen
Externí odkaz:
https://doaj.org/article/3d81b2ea40df4626b1219213269d4b48
Autor:
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Publikováno v:
Pediatric Neurology, 141, 79-86. Elsevier Inc.
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. Methods: We ascertained five individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02740ae55b971306f4ea081d8bd64ad
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
Autor:
Constantin-Cristian Topriceanu, Da-Yea Song, Sotirios Bisdas, Maria Kinali, Denis C. Ilie-Ablachim
Publikováno v:
Neuroradiology. 63:2057-2072
Autism Spectrum Disorder (ASD) is diagnosed through observation or interview assessments, which is time-consuming, subjective, and with questionable validity and reliability. Thus, we aimed to evaluate the role of machine learning (ML) with neuroimag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e8faec496bf3999b5e7a778224cf91
https://doi.org/10.1007/s00234-021-02774-z
https://doi.org/10.1007/s00234-021-02774-z
Autor:
Angelisa, Frasca, Efterpi, Pavlidou, Matteo, Bizzotto, Yunan, Gao, Dario, Balestra, Mirko, Pinotti, Hans Atli, Dahl, Nicholas D, Mazarakis, Nicoletta, Landsberger, Maria, Kinali
CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linkedMRI and video EEG telemetry were used to describe brain activity and capture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0f495c0971ff75a41cd20f17b0c0da4e
http://hdl.handle.net/11392/2481031
http://hdl.handle.net/11392/2481031
Autor:
Stephen T J Ray, Omar Abdel-Mannan, Mario Sa, Charlotte Fuller, Greta K Wood, Karen Pysden, Michael Yoong, Helen McCullagh, David Scott, Martin McMahon, Naomi Thomas, Micheal Taylor, Marjorie Illingworth, Nadine McCrea, Victoria Davies, William Whitehouse, Sameer Zuberi, Keira Guthrie, Evangeline Wassmer, Nikit Shah, Mark R Baker, Sangeeta Tiwary, Hui Jeen Tan, Uma Varma, Dipak Ram, Shivaram Avula, Noelle Enright, Jane Hassell, Amy L Ross Russell, Ram Kumar, Rachel E Mulholland, Sarah Pett, Ian Galea, Rhys H Thomas, Laura A Benjamin, Ming Lim, Yael Hacohen, Tom Solomon, Michael J Griffiths, Benedict D Michael, Rachel Kneen, Gerome Breen, Hannah Castell, Ceryce Collie, Lilly George, Monika Hartmann, Marc Henrion, Maria Kinali, Christina Petropoulos, Sithara Ramdas, Victoria Vlachou, Brigitte Vollmer, Bethany Facer, Cordelia Dunai, Laura Benjamin
Publikováno v:
The Lancet. Child & Adolescent Health
LANCET CHILD & ADOLESCENT HEALTH
LANCET CHILD & ADOLESCENT HEALTH
Background:The spectrum of neurological and psychiatric complications associated with paediatric SARS-CoV-2 infection is poorly understood. We aimed to analyse the range and prevalence of these complications in hospitalised children and adolescents.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c678301e22dab3f28d3c380bca0515
https://eprints.soton.ac.uk/450677/
https://eprints.soton.ac.uk/450677/
Autor:
Loucas Christodoulou, Efterpi Pavlidou, Matthew Pitt, Maria Kinali, Stacey Zimmels, Ian M Balfour-Lynn, Mantha Pantazi, Naila Ismayilova
Publikováno v:
Developmental medicine and child neurologyREFERENCES. 64(4)
Oropharyngeal dysphagia can cause chronic aspiration leading to significant respiratory symptoms. When dysphagia is diagnosed, an underlying cause is sought. We present a case series of 15 children diagnosed aged 6 months to 5 years (mean 2y 5mo; 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d3133163d9a95bf97117b5d5657666
https://pubmed.ncbi.nlm.nih.gov/34601721
https://pubmed.ncbi.nlm.nih.gov/34601721
Autor:
Maria Kinali, Ursula Knirsch, Georg M. Stettner, M. Fernandez-Garcia, Antonia Clarke, Elizabeth Wraige, Heinz Jungbluth, Penny Fallon
Publikováno v:
Neuromuscular disorders : NMD. 31(2)
Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show seco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a19f5f4764badeced48c78064d60bc
https://pubmed.ncbi.nlm.nih.gov/33386210
https://pubmed.ncbi.nlm.nih.gov/33386210
Autor:
Justyna A. Glegola, Leontien Bosch, Ilaria Meloni, Nicholas D. Mazarakis, Francesca Hearn-Yeates, Ioanna Eleftheriadou, Alessandra Renieri, Yunan Gao, Maria Kinali, Elaine E. Irvine, Aleksandra Czerniak, Leah Murdoch, Carlos Jiménez Naranjo
Publikováno v:
Brain
Cyclin-dependent kinase-like 5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene. It predominantly affects females who typically present with severe early epileptic enceph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d498d419960eae616a56d8af1fe4a1a
http://hdl.handle.net/10044/1/77254
http://hdl.handle.net/10044/1/77254