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174 results found

Muscle function in a canine model of X-linked myotubular myopathy.

Publication: Journal Article

Grange, Robert, Jon Doering, Erin Mitchell, Melanie Holder, Xuan Guan, Melissa Goddard, Christopher Tegeler, Alan Beggs, and Martin Childers. 2012. “Muscle Function in a Canine Model of X-Linked Myotubular Myopathy.”. Muscle Nerve 46 (4): 588-91.

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Publication: Journal Article

Lawlor, Michael, Matthew Alexander, Marissa Viola, Hui Meng, Romain Joubert, Vandana Gupta, Norio Motohashi, et al. 2012. “Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment.”. Am J Pathol 181 (3): 961-8.

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RECENT PROJECTS Machine learning methods for Medical Image Analysis We developed a cost efficient framework for image segmentation that dramatically reduces the cost of generating labeled training data by intelligently selecting few samples to be labeled by achieving similar performance as to...

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Publication: Journal Article

Lawlor, Michael, Coen Ottenheijm, Vilma-Lotta Lehtokari, Kiyomi Cho, Katarina Pelin, Carina Wallgren-Pettersson, Henk Granzier, and Alan Beggs. 2011. “Novel Mutations in NEB Cause Abnormal Nebulin Expression and Markedly Impaired Muscle Force Generation in Severe Nemaline Myopathy.”. Skelet Muscle 1 (1): 23.

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Publication: Journal Article

Ottenheijm, Coen, Michael Lawlor, Ger Stienen, Henk Granzier, and Alan Beggs. 2011. “Changes in Cross-Bridge Cycling Underlie Muscle Weakness in Patients With Tropomyosin 3-Based Myopathy.”. Hum Mol Genet 20 (10): 2015-25.

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Publication: Journal Article

Gupta, Vandana, Genri Kawahara, Stacey Gundry, Aye Chen, Wayne Lencer, Yi Zhou, Leonard Zon, Louis Kunkel, and Alan Beggs. 2011. “The Zebrafish Dag1 Mutant: A Novel Genetic Model for Dystroglycanopathies.”. Hum Mol Genet 20 (9): 1712-25.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Publication: Journal Article

Lawlor, Michael, Elizabeth Dechene, Emily Roumm, Amelia Geggel, Behzad Moghadaszadeh, and Alan Beggs. 2010. “Mutations of Tropomyosin 3 (TPM3) Are Common and Associated With Type 1 Myofiber Hypotrophy in Congenital Fiber Type Disproportion.”. Hum Mutat 31 (2): 176-83.

Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.

Publication: Journal Article

Ziane, Rahima, Hai Huang, Behzad Moghadaszadeh, Alan Beggs, Georges Levesque, and Mohamed Chahine. 2010. “Cell Membrane Expression of Cardiac Sodium Channel Na(v)1.5 Is Modulated by Alpha-Actinin-2 Interaction.”. Biochemistry 49 (1): 166-78.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Publication: Journal Article

Al-Qusairi, Lama, Norbert Weiss, Anne Toussaint, Céline Berbey, Nadia Messaddeq, Christine Kretz, Despina Sanoudou, et al. 2009. “T-Tubule Disorganization and Defective Excitation-Contraction Coupling in Muscle Fibers Lacking Myotubularin Lipid Phosphatase.”. Proc Natl Acad Sci U S A 106 (44): 18763-8.

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

Publication: Journal Article

Ottenheijm, Coen, Christian Witt, Ger Stienen, Siegfried Labeit, Alan Beggs, and Henk Granzier. 2009. “Thin Filament Length Dysregulation Contributes to Muscle Weakness in Nemaline Myopathy Patients With Nebulin Deficiency.”. Hum Mol Genet 18 (13): 2359-69.