Results 41 to 50 of about 171,176 (147)

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

Movement Disorders, Volume 41, Issue 1, Page 84-94, January 2026.
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

Prolonged Detection of GHB Intake in Urine: Are We Finally There?

Drug Testing and Analysis, Volume 17, Issue 12, Page 2429-2446, December 2025.
In a randomised placebo‐controlled trial with 30 volunteers, urinary LC‐MS/MS analysis demonstrated that a tentative GHB‐pentose conjugate remained elevated in urine up to 72 h post‐administration. This biomarker showed clear distinction from placebo and may offer extended detection compared to GHB itself, representing a significant step forward in ...
Kathrine B. Faldborg, Jørgen B. Hasselstrøm, Thomas Kraemer, Charlotte U. Andersen, Andrea E. Steuer   +4 more
wiley   +1 more source

Treatment of Neurogenic Voice Disorders

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 541-547, December 2025.
ABSTRACT This overview serves as a foundational resource for clinicians caring for neurologically complex patients presenting with voice complaints. Neurogenic voice disorders are diverse in their clinical presentations and therapeutic approaches. A thorough medical history, including family history, detailed laryngeal examination, voice assessments ...
Mausumi Syamal
wiley   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Improvements in daytime sleepiness and disrupted nighttime sleep with once-nightly sodium oxybate in people with narcolepsy type 1 and type 2: a plain language summary

Journal of Comparative Effectiveness Research
What is this summary about? This is a plain language summary of a published article in the journal Sleep. Narcolepsy is a sleep condition that has 2 different subtypes: narcolepsy type 1 and narcolepsy type 2. These are called NT1 and NT2 for short.
Yves Dauvilliers, Thomas Roth, Richard Bogan, Michael J Thorpy, Anne Marie Morse, Fèri Ascencion, Jennifer Gudeman   +6 more
doaj   +1 more source

Response to Letter to the Editor Regarding “Implications of Oxybate Dosing Regimen for Sleep, Sleep Architecture, and Disrupted Nighttime Sleep in Patients With Narcolepsy: A Commentary”

Neurology and Therapy
Chad Ruoff, Shawn Candler, Jed Black
doaj   +1 more source

Clinical pearls for the treatment of narcolepsy. [PDF]

Ment Health Clin
Bulloch MN, Geyer JD.
europepmc   +1 more source

A Comprehensive Review of Current and Emerging Treatments for Narcolepsy Type 1. [PDF]

J Clin Med
Xu Q, Chen Y, Wang T, Zhu Q, Xu J, Zhang L.   +5 more
europepmc   +1 more source

Orexin receptor 2 agonists: a pathophysiologic approach to narcolepsy type 1. [PDF]

Ann Med Surg (Lond)
Arif Z, Siddiqui E, Hujjat SFZ, Khan MS, Mauhmoud A.   +4 more
europepmc   +1 more source

Long-Term Daytime Use of Sodium Oxybate in Laryngeal Dystonia: A Follow-Up Online Survey Study. [PDF]

Laryngoscope
O'Flynn LC, Simonyan K.
europepmc   +1 more source