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Items: 3

Select item 107790171.

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3

Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oksana Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali

Int J Mol Sci. 2024 Jan; 25(1): 129. Published online 2023 Dec 21. doi: 10.3390/ijms25010129

PMCID:: PMC10779017

Abstract Article PDF–2.5M

Select item 53344722.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Ronak M. Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T. Lu, V. Reid Sutton, Susan D. Fernbach, Mahshid Azamian, Lisa White, Jane C. Edmond, Evelyn A. Paysse, John W. Belmont, Donna Muzny, James R. Lupski, Richard A. Gibbs, Richard Alan Lewis, Brendan H. Lee, Seema R. Lalani, Philippe M. Campeau

Cold Spring Harb Mol Case Stud. 2017 Mar; 3(2): a000984. doi: 10.1101/mcs.a000984

PMCID:: PMC5334472

Abstract Article PDF–1.5M

Select item 47663743.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Irina T. Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson, Eveline Blom, Nanna Witting, Magnhild Rasmussen, Michael T. Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sarkozy, Luigi D’Argenzio, Louise Hartley, Emma Matthews, Matthew Pitt, John Vissing, Martin Ballegaard, Christian Krarup, Andreas Slørdahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Løkken, Ulla Werlauff, Mena Abdelsayed, Mark R. Davis, Lucy Feng, Rahul Phadke, Caroline A. Sewry, Jennifer E. Morgan, Nigel G. Laing, Hilary Vallance, Peter Ruben, Michael G. Hanna, Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni

Brain. 2016 Mar; 139(3): 674–691. Published online 2015 Dec 22. doi: 10.1093/brain/awv352