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Plos One
|
December 11, 2025
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study
Karlien Mul, Kate Eichinger, Man Hung, et al.
Neuromuscular Disorders : NMD
|
June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Renata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Neurology
|
February 26, 2026
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1
Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 18, 2023
Increased frequency of repeat expansion mutations across different populations
Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Nature Medicine
|
October 1, 2024
Increased frequency of repeat expansion mutations across different populations
Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Muscle & Nerve
|
May 11, 2026
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1
Valeria A Sansone, Andrea Lizio, Carola R Ferrari Aggradi, et al.
Annals of Clinical and Translational Neurology
|
August 11, 2020
Neuronal intranuclear inclusion disease is genetically heterogeneous
Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, et al.
Neurology. Clinical Practice
|
December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1
Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.
Human Mutation
|
April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation
Anna Sarkozy, Debbie Hicks, Judith Hudson, et al.
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of 5
Search research articles
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Showing results (41-50 of 49) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 49 results.
Plos One
|
December 11, 2025
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study
Karlien Mul, Kate Eichinger, Man Hung, et al.
Neuromuscular Disorders : NMD
|
June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Renata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Neurology
|
February 26, 2026
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1
Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 18, 2023
Increased frequency of repeat expansion mutations across different populations
Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Nature Medicine
|
October 1, 2024
Increased frequency of repeat expansion mutations across different populations
Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Muscle & Nerve
|
May 11, 2026
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1
Valeria A Sansone, Andrea Lizio, Carola R Ferrari Aggradi, et al.
Annals of Clinical and Translational Neurology
|
August 11, 2020
Neuronal intranuclear inclusion disease is genetically heterogeneous
Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, et al.
Neurology. Clinical Practice
|
December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1
Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.
Human Mutation
|
April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation
Anna Sarkozy, Debbie Hicks, Judith Hudson, et al.
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of 5