Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Myotonic Dystrophy and CNBP[original query] |
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| Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2. Journal of neuromuscular diseases 2021 May . Damen M J, Schijvenaars M M V A P, Schimmel Naber A M, Groothuismink J M, Coenen M J H, Tieleman A |
| Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. Postepy psychiatrii neurologii 2024 8 33 (2): 109-114. Wiktoria Radziwonik-Fr?czyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona St?pniak, Marta Lipowska, Anna Potulska-Chromik, Anna Su? |
| Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. Neurogenetics 2024 5 . Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sul |
| Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics. Neurology. Genetics 2024 12 11 (1): e200220. Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C Lucas, Kerstin Becker, Stephanie Kleinle, Manuela Timmer, Andrea Bier, Gilbert Wunderlich, Stephan Wenninger, Maggie C Walter, Teresa Neuhann, Benedikt Schoser, Elke Holinski-Feder, Angela Abic |
- Page last reviewed:Feb 1, 2024
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