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Ami Mankodi

Showing results (21-30 of 39) with videos related to

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Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Muscle & Nerve|October 6, 2017
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challengesNivedita U Jerath, Ami Mankodi, Thomas O Crawford, et al.
The Journal of Biological Chemistry|March 27, 2014
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathyXiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, et al.
Neuromuscular Disorders : NMD|September 28, 2013
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaSandra Donkervoort, Alice Schindler, Carolina Tesi-Rocha, et al.
Communications Biology|March 20, 2021
Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulationPankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, et al.
Neuromuscular Disorders : NMD|March 20, 2022
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophyThomas C Bulea, Amanda Guth, Nathan Sarkar, et al.
Scientific Reports|January 7, 2023
Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous systemYotam Blech-Hermoni, Kalpana Subedi, Maya Silver, et al.
Annals of Clinical and Translational Neurology|September 15, 2017
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophyAmi Mankodi, William Kovacs, Gina Norato, et al.
Biochemistry|March 29, 2017
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-ActinNorman R Watts, Xiaolei Zhuang, Joshua D Kaufman, et al.
Annals of Clinical and Translational Neurology|July 8, 2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11Benoît Renvoisé, Jaerak Chang, Rajat Singh, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Muscle & Nerve|October 6, 2017
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challengesNivedita U Jerath, Ami Mankodi, Thomas O Crawford, et al.
The Journal of Biological Chemistry|March 27, 2014
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathyXiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, et al.
Neuromuscular Disorders : NMD|September 28, 2013
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaSandra Donkervoort, Alice Schindler, Carolina Tesi-Rocha, et al.
Communications Biology|March 20, 2021
Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulationPankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, et al.
Neuromuscular Disorders : NMD|March 20, 2022
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophyThomas C Bulea, Amanda Guth, Nathan Sarkar, et al.
Scientific Reports|January 7, 2023
Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous systemYotam Blech-Hermoni, Kalpana Subedi, Maya Silver, et al.
Annals of Clinical and Translational Neurology|September 15, 2017
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophyAmi Mankodi, William Kovacs, Gina Norato, et al.
Biochemistry|March 29, 2017
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-ActinNorman R Watts, Xiaolei Zhuang, Joshua D Kaufman, et al.
Annals of Clinical and Translational Neurology|July 8, 2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11Benoît Renvoisé, Jaerak Chang, Rajat Singh, et al.
Pageof 4