Results 121 to 130 of about 1,742,640 (300)

Autoimmune Neuromuscular Disorders: Emerging Insights and Future Frontiers [PDF]

: In recent years, our knowledge rapidly increased with respect to the immunology and immunological aspects of neuromuscular disorders [...]
Filippo Brighina, Vincenzo Di Stefano, Di Stefano, Vincenzo, Brighina, Filippo   +3 more
core   +1 more source

Neuromuscular Disorders at 30 [PDF]

Neuromuscular Disorders, 2020
openaire   +2 more sources

Irreversible Electroporation for Inferior Turbinate Reduction Ablation in Adults

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Inferior turbinate hypertrophy is a common cause of nasal airway obstruction. An optimal surgical approach should provide effective volume reduction while preserving mucosal integrity and minimizing postoperative morbidity. Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) for non‐thermal ablation ...
Narin Nard Carmel Neiderman, Codrut Sarafoleanu, Ionut Tanase, Mihai Alexandru Pascu, Desiderio Passali, Ulugbek Saidakramovich Khasanov, Ulugbek Nuridinovich Vokhidov, Eugenijus Lesinskas, Marius Polianskis, Avraham Abergel   +9 more
wiley   +1 more source

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology
Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented.
Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann   +28 more
doaj   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

Antenatal description of large 4q13.2q21.23 deletion and outcomes

Molecular Genetics & Genomic Medicine
Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech.
Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret   +9 more
doaj   +1 more source

Diagnostic NGS for Severe Neuromuscular Disorders

, 2015
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular ...
Radhika Dhamija, Chelsea Chambers, Chambers, Chelsea, Dhamija, Radhika   +3 more
core   +1 more source

Neuromuscular disorders in pregnancy

, 2020
Many neuromuscular disorders preexist or occur during pregnancy. In some cases, pregnancy unmasks a latent hereditary disorder. Most available information is based on case reports or series or retrospective clinical experience or patient surveys. Of special interest are pregnancy-induced changes in disease course or severity and likelihood for baseline
openaire   +2 more sources

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology

Annals of Neurology, EarlyView.
Objective Early phenotypic presentation of central afferent synapse dysfunction within patients with spinal muscular atrophy (SMA) represents a key target for therapeutic development; however, the underlying disease mechanisms remain unresolved. By further investigating motor neuron synapse and peri‐synaptic astrocyte process (PAP) defects in human SMA
Emily Welby, Xiaojie Liu, Melinda Wojtkiewicz, Linda Berg Luecke, Rebekah L. Gundry, Qing‐Song Liu, Allison D. Ebert   +6 more
wiley   +1 more source