Results 61 to 70 of about 4,114 (245)

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

High-throughput mutational analysis of TOR1A in primary dystonia

BMC Medical Genetics, 2009
Background Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous.
Truong Daniel D, Tarsy Daniel, Simon David K, Hedera Peter, Uitti Ryan J, Wszolek Zbigniew K, Batish Sat, Blitzer Andrew, Paniello Randal C, Karimi Morvarid, Tabbal Samer D, Racette Brad A, Perlmutter Joel S, Bastian Robert W, Xiao Jianfeng, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark S   +19 more
doaj   +1 more source

Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report

Journal of Medical Case Reports, 2022
Background The globus pallidus internus is the main target for the treatment of dystonia by deep brain stimulation. Unfortunately, for some genetic etiologies, the therapeutic outcome of dystonia is less predictable.
Andrea Giorni, Terry Coyne, Peter A. Silburn, George D. Mellick, Pankaj Sah, François Windels   +5 more
doaj   +1 more source

Altered sensorimotor activation patterns in idiopathic dystonia - an activation likelihood estimation meta-analysis of functional brain imaging studies [PDF]

, 2015
Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Functional neuroimaging studies have yielded abnormal task-related sensorimotor activation in dystonia, but the results ...
Eickhoff, Simon, Haagensen, B. N., Herz, D. M., Lokkegaard, A., Lorentzen, A. K., Siebner, H. R.   +5 more
core   +1 more source

Living With Chronic Rhinosinusitis: Insights From an Arts‐Based Study

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) significantly reduces quality of life (QoL), but data regarding the extent of its impact is sparse. Questionnaire‐based assessments of QoL may neglect aspects of complex patient experiences. Recent studies on asthma patients and other chronic conditions have used self‐expression through artwork to better
Jenny Xiao, Masih Sarafan, Julie Zhu, Béatrice Voizard, Andrew Vernu Thamboo   +4 more
wiley   +1 more source

Neurological Disease Detection and Monitoring from Voice Production [PDF]

, 2011
The dramatic impact of neurological degenerative pathologies in life quality is a growing concern. It is well known that many neurological diseases leave a fingerprint in voice and speech production.
A. Tsanas, A.L. Törnqvist, C.A. Eckley, E.S. Luschei, G. Fant, J.P. Rauschecker, J.R. Deller, P. Gómez, R. Das   +8 more
core   +1 more source

Congenital bilateral laryngeal paralysis in a neonatal foal—Expanding our understanding of neonatal airway dysfunction

Equine Veterinary Education, EarlyView.
Summary The case report by De Maré et al. 2025 describes a rare but instructive case of bilateral laryngeal paralysis in a newborn Warmblood foal with suspected neonatal encephalopathy (NE). The foal presented with inspiratory stridor from birth and was successfully managed through supportive medical therapy and temporary nasotracheal intubation, with ...
M. Abraham
wiley   +1 more source

An Auditory-Perceptual and Pupillometric Study of Vocal Strain and Listening Effort in Adductor Spasmodic Dysphonia

Applied Sciences, 2020
This study evaluated ratings of vocal strain and perceived listening effort by normal hearing participants while listening to speech samples produced by talkers with adductor spasmodic dysphonia (AdSD).
Mojgan Farahani, Vijay Parsa, Björn Herrmann, Mason Kadem, Ingrid Johnsrude, Philip C. Doyle   +5 more
doaj   +1 more source

Exploring Neurophysiological Mechanisms and Treatment Efficacies in Laryngeal Dystonia: A Transcranial Magnetic Stimulation Approach

Brain Sciences, 2023
Laryngeal dystonia (LD), known or termed as spasmodic dysphonia, is a rare movement disorder with an unknown cause affecting the intrinsic laryngeal muscles.
Maja Rogić Vidaković, Joško Šoda, Joshua Elan Kuluva, Braco Bošković, Krešimir Dolić, Ivana Gunjača   +5 more
doaj   +1 more source

Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia [PDF]

, 2006
Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds.
Coutinho, P., Cruz, V., Guimarães, J., Silva, S., Tuna, A.   +4 more
core