Results 71 to 80 of about 835,362 (223)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Acoustically controlled auditory training in children with speech disfluency: a case report

Revista CEFAC, 2020
The purpose of this study was to verify the effect of the acoustically controlled auditory training on the speech fluency of children diagnosed with developmental stuttering.
Priscila Biaggi Alves de Alencar, Priscila de Araújo Lucas, Edilamar De Bortoli, Luiza Maria Bernert, Letícia Paola Rodrigues, Fátima Cristina Alves Branco-Barreiro   +5 more
doaj   +2 more sources

Reception Baseline Assessment and ‘small acts’ of micro‐resistance

British Educational Research Journal, EarlyView.
Abstract In September 2021, following the global COVID‐19 pandemic, the Department for Education introduced a national standardised digital Reception Baseline Assessment (RBA) for all English 4‐year‐old children. We analyse RBA and its associated Quality Monitoring Visits, as a further intensification of the new public management of early years ...
Guy Roberts‐Holmes, Diana Sousa, Siew Fung Lee   +2 more
wiley   +1 more source

Compilation of a preliminary checklist for the differential diagnosis of neurogenic stuttering

South African Journal of Communication Disorders, 2014
Background: Neurogenic stuttering (NS) is the most frequently occurring acquired form of stuttering in children and adults. This form of stuttering is primarily caused by neurological incidents.
Mariska Lundie, Zandria Erasmus, Ursula Zsilavecz, Jeannie van der Linde   +3 more
doaj   +1 more source

Decreased Stuttering while Walking: Speech and fMRI Findings

Türk Nöroloji Dergisi, 2023
We present an adult case with severe persistent developmental stuttering (PDS) that improved dramatically with simultaneous lower limb movements (LMs). During speaking with simultaneous lower limb movement (SLM), her stuttering severity was considerably ...
Özlem Öge Daşdöğen, Çiğdem Ulaşoğlu Yıldız, Elif Kurt, Tamer Demiralp   +3 more
doaj   +1 more source

Voice and speech functions (B310-B340) [PDF]

, 2012
The International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) domain ‘voice and speech functions’ (b3) includes production and quality of voice (b310), articulation functions (b320), fluency and rhythm of speech ...
McCartney, Elspeth
core  

The IceShark, an effective method for sampling plankton under sea ice

Limnology and Oceanography: Methods, EarlyView.
Abstract Seasonal sea ice plays a crucial role in shaping coastal ecosystem dynamics throughout the circumpolar region. Of particular interest to oceanographers is the ice‐ocean interface which functions as a multidimensional habitat, supporting both sympagic algae and pelagic phytoplankton in the under‐ice surface waters.
Eleanor A. Barry, Susan Ziegler, Joey Angnatok, Emma J. Harrison, Uta Passow   +4 more
wiley   +1 more source

Voice and Speech in Atypical Parkinsonian Disorders

Movement Disorders Clinical Practice, EarlyView.
Background Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics.
Federico Rodriguez‐Porcel, Farwa Ali, Michiko Bruno, Heather Davis Cuevas, Rohit Dhall, Kylie Dunne‐Platero, Lawrence I. Golbe, Ihtsham Haq, Nicole Herndon, Lawrence S. Honig, Kyurim Kang, Sarah Kremen, Guillaume Lamotte, Nikolaus R. McFarland, Michela Mir, Leila Montaser‐Kouhsari, Alexander Pantelyat, Joel Page, Hylan Pickett, Laura Purcell Verdun, Kelly Richardson, Jessica Shurer, Michelle Troche, Rene L. Utianski, Katya Villarreal‐Cavazos, Tuhin Virmani, Anne‐Marie Wills, as the Diagnosis and Treatment Working Group, CurePSP Center of Care (CoC) Network, Farwa Ali, Michiko Bruno, Timothy Chang, Rohit Dhall, Kimiko Domoto‐Reilly, Lawrence I. Golbe, Ihtsham Haq, Lawrence S. Honig, Sarah Kremen, Guillaume Lamotte, Zoltan Mari, Nikolaus R. McFarland, Leila Montaser‐Kouhsari, Alexander Pantelyat, Federico Rodriguez‐Porcel, Junaid Siddiqui, Jessica Shurer, Christopher Spears, Tuhin Virmani, Anne‐Marie Wills   +48 more
wiley   +1 more source

Speech preparation in adults with persistent developmental stuttering. [PDF]

Brain Lang, 2015
Motor efference copy conveys movement information to sensory areas before and during vocalization. We hypothesized speech preparation would modulate auditory processing, via motor efference copy, differently in men who stutter (MWS) vs. fluent adults.
Mock JR, Foundas AL, Golob EJ.
europepmc   +4 more sources

Day-to-day Variability of Stuttering [PDF]

, 2012
Variability has long been known to be a primary feature of the disorder of stuttering (Bloodstein & Bernstein Ratner, 2008; Costello & Ingham, 1984; Yaruss, 1997a, 1997b). Many factors that affect variability have been investigated (Brown, 1937; Johnson &
Constantino, Christopher D., Leslie, Paula, Quesal, Robert W., Yaruss, J. Scott   +3 more
core