Results 131 to 140 of about 157,606 (247)

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, EarlyView.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +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

Which Patients With Dysfunctional Voiding Respond Well to Sacral Neuromodulation? ICI‐RS 2025

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Dysfunctional voiding (DV) is characterised by fluctuating or intermittent urinary flow during voiding in neurologically normal individuals. Given the different definitions used and heterogeneous pathophysiologies, outcomes following sacral neuromodulation/sacral nerve stimulation (SNM/SNS) are variably reported.
Jalesh N. Panicker, Chris Harding, Hashim Hashim, Claire Hentzen, Nikita Bhatt, Arjun Nambiar, Brigitte Schurch, Mathijs de Rijk, Stefania Musco   +8 more
wiley   +1 more source

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats

The Journal of Pathology, EarlyView.
Abstract Late‐onset Fuchs endothelial corneal dystrophy (FECD) is the most common primary disease of the corneal endothelium and the leading indication for corneal transplantation in Western countries. It is characterized by progressive accumulation, over two to three decades, of extracellular matrix (ECM) components in Descemet's membrane (DM ...
Hanielle Vaitinadapoulé, Daria Onitiu, Corantin Maurin, Gauthier Travers, Emmanuel Crouzet, Oliver Dorado‐Cortez, Sylvain Poinard, Zhiguo He, Fabien Forest, Edouard Ollier, Renaud Touraine, Philippe Gain, Jean‐Marc Perone, Gilles Thuret, the French Fuchs Study Group (FFSG), Diane Bernheim, Christophe Chiquet, Vincent Borderie, Tristan Bourcier, Jean‐Louis Bourges, Frédéric Chiambaretta, Béatrice Cochener, Louis Arnould, Florian Baudin, Catherine Creuzot, Vincent Daien, Alexandre Denoyer, Bernard Duchesne, Nicolas Duquesne, Pierre Fournie, Anne‐Sophie Gauthier, Philippe Gain, Gilles Thuret, Louis Hoffart, François Majo, Marc Muraine, Romain Mouchel, Jean Marc Perone, Jean Claude Quintyn, Alexandra Rabot, Alain Saad, Damien Gatinel, Pierre‐Yves Santiago, Jean‐Michel Bosc, David Touboul, Bertrand Vabres   +45 more
wiley   +1 more source

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, Camille Saldana, Anne‐Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre   +39 more
wiley   +1 more source

Enfermements. Règles et dérèglements en milieu clos, vie-xixe siècle

Bulletin du Centre d’Études Médiévales d’Auxerre, 2013
Axelle Neyrinck
doaj   +1 more source

Transition from Pediatric to Adult Care in Patients with Transfusion-Dependent Beta-Thalassemia in France: A National Study Concerning a Rare Disease. [PDF]

J Clin Med
Szepetowski S, Benoit A, Berbis J, Badens C, NaThalY C, Jean E, de Sainte Marie B, Agouti I, Thuret I.   +8 more
europepmc   +1 more source

Espaces, objets, populations dans les établissements hospitaliers du Moyen Âge au XXe siècle

Bulletin du Centre d’Études Médiévales d’Auxerre, 2008
Sylvie Le Clech-Charton
doaj   +1 more source

Correction: Serum NSE and EEG sleep figures for prognostication of short-term outcomes in adults with severe COVID-19 pneumonia: a prospective single-center study. [PDF]

Sci Rep
Piljan M, Celier A, Vellieux G, Pecot I, Wicky PH, Jaquet P, Manceau H, Bouadma L, de Montmollin E, Varnet O, Timsit JF, Peoc'h K, Sonneville R.   +12 more
europepmc   +1 more source