Results 101 to 110 of about 81,181 (312)

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Alm V, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +2 more sources

Neurogenesis and astrogenesis contribute to vestibular compensation in the neurectomized adult cat: cellular and behavioral evidence [PDF]

, 2009
Neurogenesis occurs in some regions of the adult mammalian brain and gives rise to neurons integrated into functional networks. In pathological or postlesional conditions, neurogenesis and astrogenesis can also occur, as demonstrated in the deafferented ...
Brahim Tighilet, Jacques Leonard, Jean Michel Brezun, Michel Lacour, Sophie Dutheil   +4 more
core   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

27 Chiasmal misrouting in infantile nystagmus syndrome (INS): phenotypes in patients with molecular diagnoses [PDF]

, 2023
MJ Gilhooley, Mariya Moosajee, MM Neveu, Maria Theodorou   +3 more
openalex   +1 more source

Fatal spinal cord compression in a horse with chronic actinobacterial cranial nuchal bursitis

Equine Veterinary Education, EarlyView.
Summary A 14‐year‐old warmblood gelding was managed for waxing and waning cranial nuchal bursitis for 2 years. Intensive medical and surgical management was not curative, and the patient was subjected to euthanasia after becoming acutely recumbent. Ante‐mortem and post‐mortem next generation sequencing of bursal tissue and post‐mortem conventional PCR ...
H. Mesch, C. Frank, J. B. Daniels, E. Acutt, E. Contino   +4 more
wiley   +1 more source

Nystagmus in enlarged vestibular aqueduct: a case series

Audiology Research, 2015
Enlarged vestibular aqueduct (EVA) is one of the commonly identified congenital temporal bone abnormalities associated with sensorineural hearing loss.
Judith White, Paul Krakovitz
doaj   +1 more source

Borna disease virus infection: Retrospective case series of five horses and two donkeys in Switzerland

Equine Veterinary Education, EarlyView.
Summary Borna disease is an acute to subacute, rarely chronic non‐purulent meningoencephaylomyelitis affecting mainly horses and sheep. This case series describes the clinical signs, diagnosis, treatment, outcome and post‐mortem findings of five horses and two donkeys with this condition. The equids affected were geldings or mares of various breeds and
I. L. Piotrowski, M. Hilbe, H. K. Junge
wiley   +1 more source

A Developmental Model of Congenital Nystagmus [PDF]

, 2005
Purpose: Congenital nystagmus (CN) is a spontaneous oscillation of the eyes with an onset in the first few months of life. In 90% of affected children there is an associated underlying sensory defect (foveal hypoplasia, cone dysfunction, cataracts, etc.).
Berry, David L., Harris, Christopher M.
core  

Pregabalin contributes to increased recovery time from isoflurane anaesthesia for magnetic resonance imaging in horses

Equine Veterinary Journal, EarlyView.
Abstract Background Pregabalin reduces excitatory neurotransmitter release and is used for anxiolysis in humans, cats, and horses. The effects of pregabalin on equine recovery following isoflurane anaesthesia are unknown. Objectives To determine if pre‐anaesthetic oral pregabalin influences recovery time and/or quality from isoflurane anaesthesia in ...
Abigail Blanton, Kati G. Glass, Jeanette Bayer, Courtney Baetge, Ryota Watanabe, Sarah N. Sampson, Mauricio Lépiz, Kara Moreno, Keila K. Ida   +8 more
wiley   +1 more source

Characterization of slow and fast phase nystagmus [PDF]

A current literature review of the analog and digital process of vestibular and optical kinetic nystagmus reveals little agreement in the methods used by various labs.
Im, Jae J., Lessard, Charles S., Rodriguez-Garcia, Carlos A., Schmidt, Glenn F., Wong, Wing Chan   +4 more
core   +1 more source