Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Autor: Kuntal Sen, Shagun Kaur, David W. Stockton, Mary Nyhuis, Jacquelyn Roberson

Publikováno v: American Journal of Perinatology Reports, Vol 11, Iss 01, Pp e26-e28 (2021)

Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 4

Externí odkaz: https://doaj.org/article/bdd5a9ab9a7349ccb73eeacb95383f71

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

Autor: Tina, Duong, Priya S, Kishnani, Kristina, An Haack, Meredith C, Foster, James B, Gibson, Catherine, Wilson, Si Houn, Hahn, Richard, Hillman, David, Kronn, Nancy D, Leslie, Loren D M, Peña, Susan E, Sparks, David W, Stockton, Pranoot, Tanpaiboon, John W, Day

Publikováno v: Journal of Neuromuscular Diseases. 9:713-730

Background: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease receiving 4000L-production-scale alglucosidase alfa for 52 weeks. Objecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61506990a232a0cdf6bf04e87c605f31
https://doi.org/10.3233/jnd-210784

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Autor: Nathan Thibault, Sonia S. Maruti, Karien Verhulst, Roberto Araujo, Matthias Boentert, David W. Stockton, Juan C. Llerena, Ans T. van der Ploeg, Priya S. Kishnani, Barry J. Byrne, Mark Roberts, Kenneth I. Berger

Publikováno v: Journal of Neurology, 267(10), 3038-3053. D. Steinkopff-Verlag
Journal of Neurology

Objective To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7129c65af5acf6525e67244183ba9e9
https://doi.org/10.1007/s00415-020-09936-8

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

Autor: David Kronn, Kristina An Haack, James B. Gibson, Si Houn Hahn, Meredith C. Foster, Raymond Y. Wang, Pranoot Tanpaiboon, David W. Stockton, Priya S. Kishnani, Barry J. Byrne, Steven D. Colan, Loren D.M. Pena, Judith Johnson, Susan Sparks, Nancy D. Leslie, Richard Hillman

Publikováno v: Cardiology in the young. 32(3)

Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c49cc75035795f7f43d93fd7526957
https://pubmed.ncbi.nlm.nih.gov/34420548

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Autor: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura

Publikováno v: Human Mutation. 41:299-315

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7
https://doi.org/10.1002/humu.23929