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American Journal of Human Genetics
|
November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
The Lancet. Neurology
|
August 10, 2019
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Michael G Hanna, Umesh A Badrising, Olivier Benveniste, et al.
Brain : a Journal of Neurology
|
May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Neurology
|
November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>
Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Neurology
|
February 18, 2021
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT
Anthony A Amato, Michael G Hanna, Pedro M Machado, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Neurology. Genetics
|
July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Marianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, et al.
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Search research articles
Search
Showing results (121-130 of 135) with videos related to
Sort By:
Page
of 14
American Journal of Human Genetics
|
November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
The Lancet. Neurology
|
August 10, 2019
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Michael G Hanna, Umesh A Badrising, Olivier Benveniste, et al.
Brain : a Journal of Neurology
|
May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Neurology
|
November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>
Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Neurology
|
February 18, 2021
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT
Anthony A Amato, Michael G Hanna, Pedro M Machado, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Neurology. Genetics
|
July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Marianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, et al.
Page
of 14