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Clinical Genetics
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August 8, 2009
Neuromuscular features in Marfan syndrome
N c Voermans, J Timmermans, N van Alfen, et al.
Journal of Neuromuscular Diseases
|
September 19, 2022
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists
L R van den Bersselaar, M H M Gubbels, H Jungbluth, et al.
Biochemistry and Biophysics Reports
|
April 6, 2026
Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease
J P Molenaar, M M Snoeck, S Treves, et al.
Neuromuscular Disorders : NMD
|
December 23, 2018
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
E van Ruitenbeek, J A E Custers, C Verhaak, et al.
European Journal of Neurology
|
September 26, 2020
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers
N Kruijt, L R van den Bersselaar, E J Kamsteeg, et al.
Neuromuscular Disorders : NMD
|
January 14, 2017
The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study
M G E Te Riele, T H A Schreuder, N van Alfen, et al.
Neuromuscular Disorders : NMD
|
June 19, 2012
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
N C Voermans, A E Laan, A Oosterhof, et al.
British Journal of Anaesthesia
|
June 15, 2021
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia
L R van den Bersselaar, T Greven, T Bulger, et al.
Journal of Neuromuscular Diseases
|
April 25, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
S Colombo, B S Cowling, L Eyler, et al.
Acta Neurologica Scandinavica
|
April 11, 2018
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
N Witting, P Laforêt, N C Voermans, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 81) with videos related to
Sort By:
Page
of 9
Clinical Genetics
|
August 8, 2009
Neuromuscular features in Marfan syndrome
N c Voermans, J Timmermans, N van Alfen, et al.
Journal of Neuromuscular Diseases
|
September 19, 2022
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists
L R van den Bersselaar, M H M Gubbels, H Jungbluth, et al.
Biochemistry and Biophysics Reports
|
April 6, 2026
Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease
J P Molenaar, M M Snoeck, S Treves, et al.
Neuromuscular Disorders : NMD
|
December 23, 2018
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
E van Ruitenbeek, J A E Custers, C Verhaak, et al.
European Journal of Neurology
|
September 26, 2020
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers
N Kruijt, L R van den Bersselaar, E J Kamsteeg, et al.
Neuromuscular Disorders : NMD
|
January 14, 2017
The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study
M G E Te Riele, T H A Schreuder, N van Alfen, et al.
Neuromuscular Disorders : NMD
|
June 19, 2012
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
N C Voermans, A E Laan, A Oosterhof, et al.
British Journal of Anaesthesia
|
June 15, 2021
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia
L R van den Bersselaar, T Greven, T Bulger, et al.
Journal of Neuromuscular Diseases
|
April 25, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
S Colombo, B S Cowling, L Eyler, et al.
Acta Neurologica Scandinavica
|
April 11, 2018
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
N Witting, P Laforêt, N C Voermans, et al.
Page
of 9