Results 81 to 90 of about 20,218 (296)

Square Wave Jerks

Short video identifying square wave ...
Neil R. Miller, MD
core   +2 more sources

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Square Wave Jerks

, 1986
Example of patient with square wave jerks. Discussion of difference between square wave jerks (saccadic oscillations) and horizontal nystagmus.IC-D7di-square-wave-jerks-macro-square-wave ...
Kathleen B. Digre, MD
core  

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Kinetics and Kinematics of the Push Press, Push Jerk, and Split Jerk

Journal of Strength & Conditioning Research
Abstract Soriano, MA, Jiménez-Ormeño, E, Lake, JP, McMahon, JJ, Gallo-Salazar, C, Mundy, P, and Comfort, P. Kinetics and kinematics of the push press, push jerk, and split jerk. J Strength Cond Res 38(8): 1359–1365, 2024—The aim of this study was to explore the kinetics and ...
Marcos A. Soriano, Ester Jiménez-Ormeño, Jason P. Lake, John J. McMahon, César Gallo-Salazar, Peter Mundy, Paul Comfort   +6 more
openaire   +4 more sources

Intermittent Square Wave Jerks

, 1986
Patient with intermittent square wave jerks (no audio)IC-D7di-square-wave-jerks-macro-square-wave ...
Kathleen B. Digre, MD
core  

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +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

Effects of intermittent exposure to hypobaria and cold on the microarchitecture and morphofunctional profile of rat gastrocnemius muscle

The Anatomical Record, EarlyView.
Abstract Intermittent hypobaric hypoxia (IHH) enhances oxygen transport, muscle metabolism, and cardiovascular health; however, the combined effects of hypobaria and cold are less well understood. Exposure to these stressful environmental factors, even intermittently, can affect skeletal muscle due to its plasticity, thereby altering its metabolic and ...
Garoa Santocildes, Teresa Pagès, Ginés Viscor, Joan Ramon Torrella   +3 more
wiley   +1 more source

Geomagnetic jerks as chaotic fluctuations of the Earth’s magnetic field

, 2013
The geomagnetic field is chaotic and can be characterized by a mean exponential time scaleafter which it is no longer predictable. It is also ergodic, so time analyses can substitute the more difficult phase space analyses.
Mandea, M., Simonyan, A., Qamili, E., De Santis, A., Isac, A., Duka, B.   +5 more
core   +1 more source