HuGE Literature Finder
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| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Annals of clinical and translational neurology 2022 6 9 (8): 1302-1309. Bruels Christine C, Littel Hannah R, Daugherty Audrey L, Stafki Seth, Estrella Elicia A, McGaughy Emily S, Truong Don, Badalamenti Jonathan P, Pais Lynn, Ganesh Vijay S, O'Donnell-Luria Anne, Stalker Heather J, Wang Yang, Collins Christin, Behlmann Andrea, Lemmers Richard J L F, van der Maarel Silvère M, Laine Regina, Ghosh Partha S, Darras Basil T, Zingariello Carla D, Pacak Christina A, Kunkel Louis M, Kang Peter |
| Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD 2020 5 30 (6): 457-471. Abdel Aleem Alice, Elsaid Mahmoud F, Chalhoub Nader, Chakroun Almahdi, Mohamed Khalid A S, AlShami Rana, Kuzu Omer, Mohamed Reem B, Ibrahim Khalid, AlMudheki Noora, Osman Omar, Ross M Elizabeth, ELalamy Osa |
| Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma. Nature communications 2018 12 9 (1): 5410. Gallia Gary L, Zhang Ming, Ning Yi, Haffner Michael C, Batista Denise, Binder Zev A, Bishop Justin A, Hann Christine L, Hruban Ralph H, Ishii Masaru, Klein Alison P, Reh Douglas D, Rooper Lisa M, Salmasi Vafi, Tamargo Rafael J, Wang Qing, Williamson Tara, Zhao Tianna, Zou Ying, Meeker Alan K, Agrawal Nishant, Vogelstein Bert, Kinzler Kenneth W, Papadopoulos Nickolas, Bettegowda Chet |
| LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle & nerve 2015 Oct 52 (4): 547-53. Løkken Nicoline, Born Alfred Peter, Duno Morten, Vissing Jo |
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