Results 201 to 210 of about 2,764,830 (288)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Modulation of the lens water content changes the stiffness of the <i>ex-vivo</i> non-decapsulated bovine lenses. [PDF]

Front Ophthalmol (Lausanne)
Qiu C, Shi D, Pan X, Chen Y, Donaldson PJ.   +4 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Elevated circulating bile acids driven erythrocyte osmotic resistance marks hepatobiliary disease. [PDF]

Am J Physiol Gastrointest Liver Physiol
Yeoh BS, Sah SK, Saha P, Joe B, Gewirtz AT, Sodeman T, Reddivari L, Vijay-Kumar M.   +7 more
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Classifying Hyponatremias According to Tonicity Disorder: Hypotonic Hyponatremia, Hypertonic Hyponatremia, and Pseudohyponatremia as Distinct Entities. [PDF]

Cureus
Ing TS, Garrett RE, Sam R, Argyropoulos C, Lew SQ, Roumelioti ME, Unruh M, Vigil D, Rohrscheib M, Wagner B, Tzamaloukas AH.   +10 more
europepmc   +1 more source

Lower Urinary Tract Symptoms as Diagnostic Clues in Parkinsonism: A Practical Framework for Neurologists

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Lower urinary tract symptoms (LUTS) are among the most prevalent nonmotor complaints across the parkinsonian spectrum, yet they remain underutilized as diagnostic and management signals in neurology practice. Although prior reviews have characterized disease‐specific patterns of urinary dysfunction, and recent guidelines address ...
Saar Anis, Omer Anis, Abhishek Lenka, Junaid H. Siddiqui   +3 more
wiley   +1 more source

Lipid Bilayer-Confined J-Aggregation Transduces Cell Membrane Mechanics into Photoacoustic Signals. [PDF]

J Am Chem Soc
Hua Y, Halder M, Amer L, Khan S, Wang WZ, Lam B, Souri M, Jokerst JV.   +7 more
europepmc   +1 more source

JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?

Movement Disorders Clinical Practice, EarlyView.
Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological occurrence in this context ...
Elena Ardila Jurado, Koustubh Bavdhankar, Divyani Garg, Francesca Magrinelli, Huw R. Morris, Kailash P. Bhatia   +5 more
wiley   +1 more source

Quantitative Measurements of Stromal and Epithelial Riboflavin With a Novel Transepithelial High-Concentration Riboflavin Soak-and-Rinse Protocol. [PDF]

Transl Vis Sci Technol
Thaware OC, White E, Wilson R, Ni S, Jian Y, Acott T, Li Y, Huang D.   +7 more
europepmc   +1 more source