Early brain morphometrics from neonatal MRI predict motor and cognitive outcomes at 2-years corrected age in very preterm infants

Autor: Alex M. Pagnozzi, Liza van Eijk, Kerstin Pannek, Roslyn N. Boyd, Susmita Saha, Joanne George, Samudragupta Bora, DanaKai Bradford, Michael Fahey, Michael Ditchfield, Atul Malhotra, Helen Liley, Paul B. Colditz, Stephen Rose, Jurgen Fripp

Publikováno v: NeuroImage, Vol 267, Iss , Pp 119815- (2023)

Infants born very preterm face a range of neurodevelopmental challenges in cognitive, language, behavioural and/or motor domains. Early accurate identification of those at risk of adverse neurodevelopmental outcomes, through clinical assessment and M

Externí odkaz: https://doaj.org/article/14d71c465f7c4e1cb287877c94f88022

Automated, quantitative measures of grey and white matter lesion burden correlates with motor and cognitive function in children with unilateral cerebral palsy

Autor: Alex M. Pagnozzi, Nicholas Dowson, James Doecke, Simona Fiori, Andrew P. Bradley, Roslyn N. Boyd, Stephen Rose

Publikováno v: NeuroImage: Clinical, Vol 11, Iss C, Pp 751-759 (2016)

White and grey matter lesions are the most prevalent type of injury observable in the Magnetic Resonance Images (MRIs) of children with cerebral palsy (CP). Previous studies investigating the impact of lesions in children with CP have been qualitativ

Externí odkaz: https://doaj.org/article/2e5cc5db1c694e778b1d7650c2bf3fba

Early brain morphometrics from neonatal MRI predict motor and cognitive outcomes at 2-years corrected age in very preterm infants

Autor: Alex M. Pagnozzi, Liza van Eijk, Kerstin Pannek, Roslyn N. Boyd, Susmita Saha, Joanne George, Samudragupta Bora, DanaKai Bradford, Michael Fahey, Michael Ditchfield, Atul Malhotra, Helen Liley, Paul B. Colditz, Stephen Rose, Jurgen Fripp

Publikováno v: NeuroImage.

Infants born very preterm face a range of neurodevelopmental challenges in cognitive, language, behavioural and/or motor domains. Early accurate identification of those at risk of adverse neurodevelopmental outcomes, through clinical assessment and M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c738e9536bfe14976acc52c82be033
https://pubmed.ncbi.nlm.nih.gov/36529204

White matter microstructure and receptive vocabulary in children with cerebral palsy: The role of interhemispheric connectivity

Autor: Olga Laporta-Hoyos, Kerstin Pannek, Alex M. Pagnozzi, Simona Fiori, Roslyn N. Boyd

Publikováno v: PLOS ONE. 18:e0280055

Background Communication and cognitive impairments are common impediments to participation and social functioning in children with cerebral palsy (CP). Bilateral language networks underlie the function of some high-level language-related cognitive fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::91fb71d9a6f4dea4cde53581d3745832
https://doi.org/10.1371/journal.pone.0280055

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Autor: Serdal Güngör, Benita Grossmann, Bethany Y. Norton, Zubair M. Ahmed, Wendy K. Chung, John Neidhardt, Julie S. Cohen, Elodie Richard, Yoel Hirsch, Jiankang Li, Jozef Gecz, Ralf A. Husain, Saima Riazuddin, Maria J. Guillen Sacoto, Claudia Steen, Andreas Ziegler, G. Christoph Korenke, Dominic Lenz, Mahim Jain, Urania Kotzaeridou, Henry Houlden, Theresa Brunet, Yavuz Oktay, Semra Hiz, Patricia Cornejo, Sheetal Shetty, Alastair H. MacLennan, Nazira Zharkinbekova, Bader Alhaddad, Dani L. Webber, Mary Alice Abbott, Hanns Lochmüller, Rauan Kaiyrzhanov, Melissa Yelton, Cecilia Mancini, Hakon Hakonarson, Amy Crunk, Simona Amenta, Yiran Guo, Jan Kaslin, Clare L. van Eyk, Richard Webster, Arianna Tucci, Alex M. Pagnozzi, Robert B. Hufnagel, Kirsty McWalter, Sandra M. Nordlie, Kaya Bilguvar, Pasquale Striano, Matias Wagner, Florian Kreuder, Lisa Worgan, Ashley P.L. Marsh, Anna Chassevent, Warren A. Marks, James Liu, Brandon S. Guida, Maria Margherita Mancardi, Kelly Harper, Lance H. Rodan, Rhonda E. Schnur, Dianela Judith Claps Sepulveda, Tzvi Weiden, Michele Pinelli, Marion Rapp, Helen Magee, Jesia G. Berry, Aboulfazl Rad, Michael C. Kruer, Mark A. Corbett, Rita Horvath, Constance Smith-Hicks, Joseph Ekstein, Marta Owczarek-Lipska, Somayeh Bakhtiari, Heinrich Sticht, Thomas Meitinger, Anne M. Comi, Alyssa Blesson, Iris Marquardt, Francesca Clementina Radio, Sergio Padilla-Lopez, Giuseppe Marangi, Christine Makowski, Mona Grimmel, Marco Tartaglia, Sheng Chih Jin, Federico Zara, Andreas Hahn, Shrikant Mane, Michael C Fahey, Marcella Zollino, Barbara Vona, Peter D. Turnpenny, Manuela Morleo, Ute Grasshoff, Amber Begtrup, Richard E. Person, Annalaura Torella, Alexander Münchau, Vincenzo Nigro, Reza Maroofian, John Christodoulou, Tobias B. Haack, Vincenzo Salpietro

Publikováno v: Am. J. Hum. Genet. 108, 2006-2016 (2021)
Am J Hum Genet

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1887f7ac3875dcbc64050199115f63ee
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63291