Results 51 to 60 of about 53,110 (329)

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Knee and Hip Joint Kinematics Predict Quadriceps and Hamstrings Neuromuscular Activation Patterns in Drop Jump Landings. [PDF]

PLoS ONE, 2016
PURPOSE:The purpose was to assess if variation in sagittal plane landing kinematics is associated with variation in neuromuscular activation patterns of the quadriceps-hamstrings muscle groups during drop vertical jumps (DVJ).
Bart Malfait, Bart Dingenen, Annemie Smeets, Filip Staes, Todd Pataky, Mark A Robinson, Jos Vanrenterghem, Sabine Verschueren   +7 more
doaj   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Quadriceps Muscle Mechanical Simulator for Training of Vastus Medialis Obliquus and Vastus Lateralis Obliquus Mechanical Properties

Orthopaedic Journal of Sports Medicine, 2014
Objectives: In classical anatomy quadriceps muscle has four heads. Clinical studies have demostrated 6 heads of this muscle. These heads were demostrated seperately not only by their functional properties,but also by innervation and kinesiological ...
Rafet Irmak, Ahsen Irmak, Gökhan Biçer
doaj   +1 more source

Lower Extremity Muscle Activations in Response to Different Medial Longitudinal Arch Height during the Dynamic Balance Test [PDF]

The Asian Journal of Kinesiology
OBJECTIVES This study aimed to investigate whether muscle activation differs based on foot arch height and to examine the association between foot arch height and muscle activation during the dynamic balance test.
Suhyeon Ko, Daeho Ha, Byungjoo Noh
doaj   +1 more source

Nitric oxide synthase in skeletal muscle fibres of patients with type 2 diabetes [PDF]

, 2012
Muscle-derived nitric oxide (NO) mediates fundamental physiological actions on skeletal muscle including glucose uptake into muscle cells. Recently, we have shown that the altered glucose metabolism in skeletal muscle of patients with type 2 diabetes ...
Andreas Oberbach, Igor Buchwalow, Karla Punkt, Katharina Kandt, Matthias Blueher, Volker Adams   +5 more
core   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN   +15 more
wiley   +1 more source

Muscle fiber typology substantially influences time to recover from high-intensity exercise [PDF]

, 2020
Human fast-twitch muscle fi- bers generate high power in a short amount of time but are easily fatigued, whereas slow-twitch fibers are more fatigue resistant.
Bex, Tine, Derave, Wim, Klass, Malgorzata, Lievens, Eline   +3 more
core   +2 more sources

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source