Results 191 to 200 of about 79,932 (302)

Broadening the Movement Disorder Spectrum in MECP2‐Related Disorders: From Ataxia to Opsoclonus‐Myoclonus

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Background MECP2‐related disorders encompass a broad spectrum of movement disorders, but opsoclonus has not been characterized within this spectrum. Case Presentation We describe a girl with a de novo pathogenic MECP2 variant who developed an acute/subacute cerebellar presentation following a prolonged febrile illness, evolving from prominent ...
Bruno Antunes Contrucci, Maria Victoria Suguitani Santello, Marcela Lopes de Almeida, Rafaela Pichini de Oliveira, Vitor Tumas, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña, Carla Andrea Cardoso Tanuri Caldas   +7 more
wiley   +1 more source

Drug‐Refractory Dystonia: Benefits of Lamotrigine Therapy in a Case of SCN2A Epilepsy‐Dyskinesia Syndrome

Movement Disorders Clinical Practice, EarlyView.
Isobel S. Platt, Patrick B. Moloney, Sanjay M. Sisodiya, Thomas T. Warner   +3 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing. [PDF]

Diabetes Care
Murray Leech J, Sriram A, Colclough K, Hattersley AT, Houghton JAL, Laver TW, Patel KA.   +6 more
europepmc   +1 more source

Functional Characterization of CYP26B1 Short Isoform as a Novel Locus for Obesity in Indigenous Americans From Arizona

Obesity, EarlyView.
ABSTRACT Objective To identify heritable factors that affect BMI among Indigenous Americans, we previously conducted a genome‐wide association study using 7.9 million imputed genetic variants from 6789 participants. This study sought to identify a mechanistic link between variants with the strongest association with BMI and adipocyte metabolism ...
Fehmida Farid Khan, Michael Traurig, Kendrick Freeland, Robert L. Hanson, Paolo Piaggi, Leslie J. Baier   +5 more
wiley   +1 more source

Genetic Insights Into Cryptogenic Stroke: From Etiologic Heterogeneity to Clinical Translation. [PDF]

J Stroke
Li L, Sun Z, Wang H, Zhang J, Cheng S.
europepmc   +1 more source

On Monogenic Nondeterministic Automata. [PDF]

Acta Cybern., 2008
Imreh Csanád, Ito Masami
openaire   +1 more source

RVE‐Based Mechanical Modeling of Woven CFRPs With Nonorthogonal Yarn Angles via Micro‐CT Scan and Deep Learning

Polymer Composites, EarlyView.
The overview of the CT‐based RVE reconstruction and FEA simulation processes of CFRPs. ABSTRACT This work mainly explores the effectiveness of using deep‐learning‐based reconstruction methods from CT scan images to directly establish the representative volume element (RVE) of woven composite materials with nonorthogonal yarn angles for high‐fidelity ...
Chongrui Tang, Deyong Sun, Ting Fai Kong, Meiyu Liu, Weizhao Zhang   +4 more
wiley   +1 more source

Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience. [PDF]

J Hum Immun
Swamy S, Shadur B, Hu H, Preece K, Hsiao KC, Blincoe A, King J, Moseley N, McLean-Tooke A, Sullivan A, McNaughton P, Pinzon-Charry A, Machado Melo M, Kane A, Berglund LJ, Suan D, Masters SL, Voskoboinik I, Okada S, Ma CS, Goodnow CC, Hsu P, Bosi I, Urriola N, Stoyanov A, Lin MW, Sinclair J, Brothers S, Cole T, Smart JM, Mehr S, Richards S, Taranto M, Wainstein B, Frith K, Gray PE, Tangye SG.   +36 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source