Results 191 to 200 of about 3,198,753 (206)

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +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

The skeleton of the green Iguana iguana (Squamata: Iguanidae) and its intraspecific morphological variation

The Anatomical Record, EarlyView.
Abstract The green iguana (Iguana iguana) is an iguanine lizard with herbivorous and arboreal habits, whose distribution spans through South America, Central America to the south of North America. Although the genus Iguana is well‐known, the species still lacks a comprehensive and up‐to‐date anatomical study, particularly addressing the axial skeleton,
Vieno Rosa, Marcos Vinícius Coelho, Camila Cupello   +2 more
wiley   +1 more source

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Respiratory manifestations in the Ehlers–Danlos syndromes

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Persons with the Ehlers–Danlos syndromes (EDS) report a wide range of respiratory symptoms, most commonly shortness of breath, exercise limitation, and cough.
R. Bascom, R. Dhingra, C. Francomano
semanticscholar   +1 more source

Respiratory manifestations of panic disorder in animals and humans: a unique opportunity to understand how supramedullary structures regulate breathing.

Respiratory Physiology & Neurobiology, 2014
The control of breathing is commonly viewed as being a "brainstem affair". As the topic of this special issue of Respiratory Physiology and Neurobiology indicates, we should consider broadening this notion since the act of breathing is also tightly ...
R. Kinkead, L. Tenorio, G. Drolet, F. Bretzner, L. Gargaglioni   +4 more
semanticscholar   +2 more sources

Update on the Management of Respiratory Manifestations of the Antineutrophil Cytoplasmic Antibodies-Associated Vasculitides.

Clinics in Chest Medicine, 2019
Antibody-associated vasculitis comprises 3 small vessel vasculitis syndromes: granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic polyangiitis (EGPA).
Gwen E. Thompson, U. Specks
semanticscholar   +1 more source

Respiratory manifestations of sickle cell disease in children: a comprehensive review for the pediatrician

Expert Review of Respiratory Medicine
Introduction Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by the production of sickle hemoglobin, leading to red blood cells sickling and hemolysis in hypoxic conditions.
Lisa Grigoli, Maria Marocchi, Laura Venditto, M. Piazza, L. Tenero, G. Piacentini, M. Zaffanello, G. Ferrante   +7 more
semanticscholar   +1 more source

Respiratory Tract Manifestations of Inflammatory Bowel Disease.

Inflammatory Bowel Diseases, 2020
Inflammatory bowel disease can manifest in many extraintestinal organ systems. The most frequently involved extraintestinal locations include the mucocutaneous, hepatobiliary, and ocular organ systems.
P. Kröner, Augustine S. Lee, F. Farraye
semanticscholar   +1 more source

Cutaneous manifestations in COVID‐19: a first perspective

Journal of the European Academy of Dermatology and Venereology, 2020
In December 2019 unexplained pneumonia cases were initially reported in Wuhan, China. The pathogen, a novel coronavirus named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was isolated from lower respiratory tract samples of infected ...
S. Recalcati
semanticscholar   +1 more source

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients

European Journal of Pediatrics, 2018
O. Shamriz, Bella Shadur, Adeeb NaserEddin, I. Zaidman, N. Simanovsky, O. Elpeleg, E. Kerem, J. Reiter, P. Stepensky   +8 more
semanticscholar   +1 more source