Results 121 to 130 of about 149,128 (273)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Premature infants with hearing loss – A critical review of the literature [PDF]

, 2015
A stay in the neonatal intensive care unit of greater than 5 days is one of the identified risks of a sensorineural hearing loss. Preterm infants usually have at least one risk factor for hearing impairment.
Rydman, Elin, Uvalic, Gabrijela
core  

Essential of audiology: screening and postscreening [PDF]

, 2014
Newborn hearing screening is a type of screening test for the early detection of hearing loss. It can recognize with good accuracy newborns affected by hearing impairment allowing an early diagnosis and intervention and avoiding cognitive and ...
Cocuzza, S, La Mattina, E, Martinelli, S, MARTINES, Enrico, MARTINES, Francesco, MUCIA, Marianna, SALVAGO, Pietro   +6 more
core   +1 more source

Mitochondrial Syndromic Sensorineural Hearing Loss

Bioscience Reports, 2007
Mitochondrial diseases (MD) are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) is often associated to mitochondrial dysfunctions both in syndromic, nonsyndromic forms.
FORLI, FRANCESCA, PASSETTI S, MANCUSO, MICHELANGELO, SECCIA V, SICILIANO, GABRIELE, NESTI, CLAUDIA, BERRETTINI, STEFANO   +6 more
openaire   +4 more sources

Predictors of hearing recovery in patients with severe sudden sensorineural hearing loss

Journal of Otolaryngology - Head & Neck Surgery, 2017
BackgroundSudden sensorineural hearing loss (SSHL) is a disease, which severely affects the patient’s social and relational life. The underlying pathomechanisms have not been finally clarified yet and outcome is not predictable.MethodsWe conducted a ...
D. Weiss, Armin Julius Böcker, M. Koopmann, E. Savvas, M. Borowski, C. Rudack   +5 more
semanticscholar   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Brainstem auditory evoked responses in an equine patient population: part I--adult horses. [PDF]

, 2014
BackgroundBrainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject.Hypothesis/objectivesTo describe BAER findings, common clinical signs, and causes of hearing loss in adult horses ...
Aleman, M, Holliday, TA, Nieto, JE, Williams, DC   +3 more
core   +1 more source

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Combined Immediate‐Release and Extended‐Release Formulation of Sodium Valproate Provides Stable Plasma Levels for Inhibition of Histone Deacetylation

Clinical Pharmacology in Drug Development, EarlyView.
Abstract A modified controlled‐release sodium valproate formulation (VAL001, test) was compared with an approved enteric‐coated tablet formulation (Absenor, reference). Pharmacokinetics and safety/tolerability were evaluated in healthy subjects to bridge with positive efficacy results from an early‐phase patient trial of valproate in combination with ...
Nikhil Ahuja, Susanna Kääriäinen, Zsófia Lovró, Mia Lundblad, Kristina Drott, Elsa Lilienberg, Marica T. Engström, Karla Saukkonen, Mika Scheinin   +8 more
wiley   +1 more source

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 [PDF]

, 2015
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disease caused by mutation of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA).
Barozzi S, De Rocco D, Kunst H, Pecci A, Ryh\ue4nen S, Savoia A, Topsakal V, Verver E   +7 more
core   +1 more source