Results 161 to 170 of about 10,901 (243)

Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment. [PDF]

Sci Rep, 2019
Choudhury S, Roy A, Mondal B, Singh R, Halder S, Chatterjee K, Baker MR, Kumar H, Baker SN.   +8 more
europepmc   +1 more source

Use of antiemetics in early pregnancy 2012–2022: A cross‐sectional study

British Journal of Clinical Pharmacology, Volume 92, Issue 7, Page 2377-2389, July 2026.
Aim Nausea and vomiting in pregnancy impact quality of life, yet many pregnant women feel dismissed by healthcare professionals, despite the safety of first‐line antiemetic treatments for both mother and fetus. Therefore, this study aims to describe the prevalence of patient‐reported antiemetic use in early pregnancy in Copenhagen, Denmark, the changes
Katrine Bak Wraae, Nanna Roed Ballegaard, Mie Lærkeholm Hede, Line Buchgreitz, Ane Lilleøre Rom, Hanne Kristine Hegaard, Nina Olsén Nathan   +6 more
wiley   +1 more source

Bilateral Ballismus: An Unusual Clinical Sign With an Unexpected Origin

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT The spectrum of neurologic symptoms caused by hypoglycaemia can be remarkably broad. Thus, hypoglycemia should be considered early in the diagnostic workup of neurologic symptoms, including those that may appear atypical. Prompt glucose administration can result in rapid symptom resolution, potentially preventing costly or unnecessary invasive
S. Reichert, A. Knoflach, I. Wiedl, K. Hoskin, C. Ganser, M. Wertli, T. Cosma   +6 more
wiley   +1 more source

Functional and structural neural bases of task specificity in isolated focal dystonia. [PDF]

Mov Disord, 2019
Bianchi S, Fuertinger S, Huddleston H, Frucht SJ, Simonyan K.   +4 more
europepmc   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Focal Neuropathy Mimicking Focal Dystonia in a Child: Diagnostic and Rehabilitative Tools. [PDF]

J Funct Morphol Kinesiol, 2019
Pavone P, Di Rosa M, Musumeci G, Caccamo M, Greco F, Pavone V, Smilari P, Santamato A, Vecchio M.   +8 more
europepmc   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross‐Border Surveillance in Germany, Austria, and Switzerland

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre, Annette L. Hess, Florian Gleich, Sven F. Garbade, Patrik Feyh, Daniela Karall, Anna Baghdasaryan, Martina Huemer, Julia B. Hennermann, Andreas Hahn, Martin Lindner, Gwendolyn Gramer, Thomas Luecke, Nils Kleinelanghorst, Johannes Haeberle, Amelie S. Lotz‐Havla, Georg F. Hoffmann, Juergen G. Okun, Ulrike Muetze, Stefan Kölker   +19 more
wiley   +1 more source