Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Laina Lusk"'
Autor:
Colleen C. Muraresku, Elizabeth M. McCormick, Lydia Rockart, T. Blaine Crowley, Stephanie Asher, Amanda Back, Sarah M. Baldino, Emma Bedoukian, Allison D. Britt, Natalie Burrill, Cara Cacioppo, Dana Farengo Clark, Mary Egan Clark, Laura Conway, Laynie Dratch, Holly A. Dubbs, Nicole M. Engelhardt, Natalie Ginn, Christopher Gray, Tiff Hartman, Evan R. Hathaway, Katherine L. Helbig, Lily Hoffman-Andrews, Stefanie Kasperski, Beth A. Keena, Kierstin N. Keller, Jessica M. Long, Lauren Lulis, Laina Lusk, Daniel E. McGinn, Rebecca Mueller, Rache A. Paul, Lisa Pilchman, Jacquelyn Powers, Sarah E. Raible, Sara Reichert, Alyssa L. Rippert, Angela G. Arnold, Sarah M. Ruggiero, Erica Schindewolf, Katie Rose Sullivan, Shannon Terek, Bekah Wang, McKenzie Wells, Natalia Wisniewski, Renee Wright, Elisabeth McCarty Wood, Stacy Woyciechowski, Kristin Zelley, Kathleen D. Valverde, Donna M. McDonald-McGinn
Publikováno v:
Genes, Vol 15, Iss 7, p 867 (2024)
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with the goal of facilitating worldwide pro
Externí odkaz:
https://doaj.org/article/59c3bef6795540fa99ac77b828440db8
Autor:
Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/7533f9f845bf4c47b91866edd70387ed
Autor:
Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionPhenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset,
Externí odkaz:
https://doaj.org/article/b5e06920b7a34b5dbc7784d184b2df59
Autor:
Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)
Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in a reversible, NADH-dependent manner. MDH2 e
Externí odkaz:
https://doaj.org/article/0c442fea3131425d94111374d304a8a9
Autor:
Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, Luigi Boccuto
Publikováno v:
Genes, Vol 14, Iss 2, p 400 (2023)
Calcium channels are an integral component in maintaining cellular function. Alterations may lead to channelopathies, primarily manifested in the central nervous system. This study describes the clinical and genetic features of a unique 12-year-old b
Externí odkaz:
https://doaj.org/article/62fe985cac444c1c8b8496e39af43623
Autor:
Maimuna S. Paul, Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela P. McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé- Pichon, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Publikováno v:
medRxiv
PPFIA3encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b9d27faee82a3f944077cb8451c280
https://europepmc.org/articles/PMC10081396/
https://europepmc.org/articles/PMC10081396/
Autor:
Shridhar Parthasarathy, Sarah M Ruggiero, Antoinette Gelot, Fernanda C Soardi, Bethânia F R Ribeiro, Douglas E V Pires, David B Ascher, Alain Schmitt, Caroline Rambaud, Hongbo M Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R Pierce, Boris Keren, Benjamin C Kennedy, Sergio D J Pena, Ingo Helbig, Vishnu Anand Cuddapah
Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) due to a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied using a canonical transcript that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eeaf7f665906b9dfae300d539e945ec
https://doi.org/10.1101/2022.06.02.492389
https://doi.org/10.1101/2022.06.02.492389
Autor:
Jessica Priestley, Lisa Pace, Nicole Engelhardt, Laina Lusk, Pamela Trapane, Sanmati Cuddapah, Ingo Helbig, Rebecca Ganetzky
Publikováno v:
Molecular Genetics and Metabolism. 135:255
Publikováno v:
Journal of medical genetics. 57(2)
We seek to report a family that appears to segregate dominant and recessive forms ofA 19-year-old woman presented with progressive childhood sensorineural hearing loss and recent optic atrophy, with biallelic mutations inThe clinical correlation of t
BACKGROUND Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6727239ff3f492289b0985efae3009ef
https://doi.org/10.2196/preprints.7989
https://doi.org/10.2196/preprints.7989