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European Journal of Neurology
|
August 29, 2024
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale
Harmke A van Kooten, Mike C Horton, Stephan Wenninger, et al.
Neuromuscular Disorders : NMD
|
July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
Kristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Pediatric Neurology
|
July 4, 2024
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients
Nathalie Smeets, Alexander Gheldof, Bart Dequeker, et al.
Orphanet Journal of Rare Diseases
|
May 12, 2017
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
Lukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, et al.
Journal of Neurology
|
January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Johanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.
Acta Neuropathologica Communications
|
December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Natasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.
Muscle & Nerve
|
March 5, 2026
Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path Forward
David R Weber, Antimo Moretti, Anne T M Dittrich, et al.
Journal of the Peripheral Nervous System : JPNS
|
April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Acta Neuropathologica
|
January 4, 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
E Servián-Morilla, M Cabrera-Serrano, K Johnson, et al.
Histology and Histopathology
|
March 13, 2013
Morphological spectrum and clinical features of myopathies with tubular aggregates
Fabian Funk, Chantal Ceuterick-de Groote, Jean-Jacques Martin, et al.
Page
of 24
Search research articles
Search
Showing results (201-210 of 239) with videos related to
Sort By:
Page
of 24
European Journal of Neurology
|
August 29, 2024
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale
Harmke A van Kooten, Mike C Horton, Stephan Wenninger, et al.
Neuromuscular Disorders : NMD
|
July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
Kristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Pediatric Neurology
|
July 4, 2024
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients
Nathalie Smeets, Alexander Gheldof, Bart Dequeker, et al.
Orphanet Journal of Rare Diseases
|
May 12, 2017
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
Lukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, et al.
Journal of Neurology
|
January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Johanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.
Acta Neuropathologica Communications
|
December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Natasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.
Muscle & Nerve
|
March 5, 2026
Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path Forward
David R Weber, Antimo Moretti, Anne T M Dittrich, et al.
Journal of the Peripheral Nervous System : JPNS
|
April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Acta Neuropathologica
|
January 4, 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
E Servián-Morilla, M Cabrera-Serrano, K Johnson, et al.
Histology and Histopathology
|
March 13, 2013
Morphological spectrum and clinical features of myopathies with tubular aggregates
Fabian Funk, Chantal Ceuterick-de Groote, Jean-Jacques Martin, et al.
Page
of 24