Results 201 to 210 of about 16,203 (292)

Severe Diabetic Ketoacidosis With Refractory Hypernatremia due to Hypokalemia-Induced Arginine Vasopressin Resistance: A Case Report and Literature Review. [PDF]

Case Rep Med
Shihab R, Shihab M, Abdallah HO, Nori S, Mashaqi O.   +4 more
europepmc   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Perioperative fluid therapy in adults and children: a narrative review. [PDF]

Front Med (Lausanne)
Lorente JV, Hervías Sanz M, Ripollés-Melchor J, Hahn RG.   +3 more
europepmc   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort

Movement Disorders, EarlyView.
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer, Gaëtan Poulen, Marie‐Céline François‐Heude, Eline Chauvet‐Piat, Bérénice Lecardonnel, Emmanuel Roze, Marie‐Ange Nguyen Morel, Domitille Gras, Adeline Quintard, Gaelle Baroux, Pierre Meyer, Philippe Coubes, Christophe Milesi, Julien Baleine, Chrystelle Sola, Vivien Szabo, Bénédicte Delye, Jana Haberlova, Mohamed Osman Eltahir Babiker, Mohammed Al Muqbil, Stéphanie Sanchez, Souad Touati, Nicolas Leboucq, Virginie Kouyoumdjian, Sylvia Sanquer, Denis Mariano‐Goulart, Thomas Roujeau, Agathe Roubertie   +27 more
wiley   +1 more source

Hyponatremia after pediatric surgery: Randomized trial of fluid composition on antidiuretic hormone response. [PDF]

Pediatr Res
Yokota K, Uchida H, Manaka K, Nangaku M, Kuwatsuka Y, Ando M, Nishiwaki K, Hirai T, Tainaka T, Shirota C, Sumida W, Makita S, Amano H, Hinoki A.   +13 more
europepmc   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Exploring the Cell Biological and Functional Effects of the First Disease Associated KCC1 Genetic Variant. [PDF]

J Cell Physiol
Bloothooft M, Huang J, Hamze M, Houtman MJC, de Boer TP, van Hasselt PM, Ecker GF, Porcher C, Medina I, van der Heyden MAG.   +9 more
europepmc   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Activation of WNK1 signaling through Piezo1. [PDF]

Proc Natl Acad Sci U S A
Jung JU, Stippec S, Cobb MH.
europepmc   +1 more source