Results 151 to 160 of about 11,881 (273)

Impact of Speech Mode in Automatic Pathological Speech Detection [PDF]

arXiv
Automatic pathological speech detection approaches yield promising results in identifying various pathologies. These approaches are typically designed and evaluated for phonetically-controlled speech scenarios, where speakers are prompted to articulate identical phonetic content.
arxiv  

Posterior fossa tremor induced by HIV-associated progressive multifocal leukoencephalopathy [PDF]

, 2005
Asmus, F., Bötzel, Kai, Pfister, H. W., Seelos, Klaus, Sporer, B.   +4 more
core   +1 more source

Objective evaluation of fusional vergence after a vision therapy protocol in typical binocular vision

Ophthalmic and Physiological Optics, Volume 45, Issue 5, Page 1173-1185, July 2025.
Abstract Introduction Vision therapy is an effective treatment option for binocular vision and accommodative anomalies. However, its effect on typical binocular vision is less documented. The aim of this study was to evaluate objectively the change in near fusional vergence amplitudes in adults with typical binocular vision after performing a vision ...
Cristina Rovira‐Gay, Marc Argiles, Clara Mestre, Marta Masdemont‐Isern, Jaume Pujol   +4 more
wiley   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, Volume 12, Issue 6, Page 1118-1125, June 2025.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Improving Adult Vision Through Pathway‐Specific Training in Augmented Reality

Advanced Science, Volume 12, Issue 21, June 5, 2025.
Traditional perceptual training approaches are limited by stimulus specificity, treatment efficacy, and patient compliance. A novel altered reality (AR) method is developed to enhance pathway‐specific functions in human adults while performing everyday activities.
Yige Gao, Yulian Zhou, Qing He, Wen Wen, Peng Zhang   +4 more
wiley   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Upbeat-torsional nystagmus due to a small pontine hemorrhage: A case report. [PDF]

Medicine (Baltimore)
Kimura M, Fujita H, Onuma H, Suzuki K.
europepmc   +1 more source

FIP1L1‐PDGFRA Positive Chronic Eosinophilic Leukemia Presenting With Vestibular Neuritis

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Myeloproliferative neoplasms are disorders of stem cells that result in excessive proliferation of one or more myeloid progenitors. We report a rare finding of chronic eosinophilic leukemia with a rearrangement of the PDGFRA gene in a 53‐year‐old male patient presenting with symptoms suggestive of vestibular neuritis.
Ahmad Abu‐Zahra, Mahfujul Z. Haque, Abdulmalik Saleem, Arif Hussain, Ferdous Nipu   +4 more
wiley   +1 more source