Results 231 to 240 of about 7,461,416 (297)

Validation of the Korean Sentence-Word Identification and Recall Test: Assessing Cognitive Spare Capacity in Noise. [PDF]

J Korean Med Sci
Kim SH, Koo M, Jeon J, Moon H, Suh MW, Lee JH, Park MK.   +6 more
europepmc   +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

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

Characteristics and prognostic assessment of acute low-frequency sensorineural hearing loss: a retrospective analysis of 546 cases. [PDF]

Ann Med
Sun X, Dong Q, Shi P, Chen L, Hu N, Xiong W, Wang Y, Wang M.   +7 more
europepmc   +1 more source

Cochlear Radiation Dose and Early Hearing Changes After Chemoradiotherapy for Head and Neck Cancer: A Single-Center Retrospective Cohort Study. [PDF]

J Clin Med
Morgovan AI, Balica NC, Negru CM, Guran K, Orasan A, Banta MA, Pintea CO, Sitaru AM, Stefanescu HE.   +8 more
europepmc   +1 more source

Prestin as a potential biomarker in peripheral blood: differential expression across hearing loss subtypes and acute inner ear injury. [PDF]

Clinics (Sao Paulo)
Sun X, Wang D, Zhao Y, Zhu Z, Hu L, Li Y.   +5 more
europepmc   +1 more source

Temporal Auditory Resolution, Timed Motor Responses to Auditory Cues, and Phonological Processing in Swedish Children with Cochlear Implants and Normal Hearing Peers. [PDF]

Audiol Res
Löwgren K, Sahlén B.
europepmc   +1 more source

Association between ankylosing spondylitis and hearing loss: A Mendelian randomization study. [PDF]

Medicine (Baltimore)
Yang Q, Xu J.
europepmc   +1 more source

Hearing Smarter: A Scoping Review of Artificial Intelligence Implementation in Hearing Devices. [PDF]

J Clin Med
Hanegan C, Andos A, Ranganath R, Ezeldin A, Price H, Ford J, Mangan A, Richter G.   +7 more
europepmc   +1 more source