Výsledky vyhledávání - "Marta Biderman Waberski"

Akademický článek

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Autor: Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford

Publikováno v: HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)

Summary: We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and si

Externí odkaz: https://doaj.org/article/b7eeb57bf1484bb7b4de6d3ef729ce71

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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Autor: David J. Harris, Teresa Santiago Sim, Heather C Mefford, Chiara De Luca, Cecilia Goueli, Alison M. Muir, Kristin G. Monaghan, Carlos E. Prada, Francesco Brancati, Marie T. McDonald, Dianne Laboy Citron, Rolf Stottman, Marta Biderman Waberski, Abbey A. Scott, Ingrid M. Wentzensen

Publikováno v: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100072-(2022)

Summary We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and sig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b288ddeade063558aa825c8a75396e3
http://europepmc.org/articles/PMC8756495

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Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature

Autor: Diederik De Graef, Jehan Mousa, Marta Biderman Waberski, Eva Morava

Publikováno v: Therapeutic Advances in Rare Disease. 3:263300402210912

Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We report on a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca55e89a97794dcf094eca80f73f5a98
https://doi.org/10.1177/26330040221091283

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KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Autor: Lisa R. Sun, Marta Biderman Waberski, James D. Dollar, Shannon L. Dean, Ada Hamosh, Amy Harper, Carl E. Stafstrom, Jessica Duis, Carolyn D. Applegate, Rui Xiao, Thomas O. Crawford, Weimin He

Publikováno v: Annals of Neurology. 80:633-637

Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10. We report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8d1a8d0eca27b35d6c704ec4a1e05f1
https://doi.org/10.1002/ana.24744

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