Results 101 to 110 of about 13,732 (248)

Challenging the Clostridium botulinum toxin type A (BoNT/A) with a selection of microorganisms by culture methods and extended storage of used vials to assess the loss of sterility [PDF]

, 2015
In 2002, botulinum toxin type A (BoNT/A) was approved by the US Food and Drug Administration (FDA) for cosmetic use. However, there may be procedural differences between the ways in which a clinician handles, applies and stores the product compared to ...
Crean, Stjohn, Dennison, Sarah Rachel, Morton, Leslie Hugh Glyn, Singhrao, Simarjit Kaur, Turner, Martin   +4 more
core  

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. [PDF]

, 2014
IntroductionEarly onset isolated dystonia (DYT1) is linked to a three base pair deletion (¿GAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle contraction leading to twisting movements or abnormal postures ...
Bandopadhyay, R, Bhatia, K, Hardy, J, Holton, JL, Houlden, H, Jinnah, HA, Kiely, A, Lashley, T, Li, A, Paudel, R   +9 more
core   +1 more source

Levodopa-Induced Jaw and Facial Dystonia in a Case of Progressive Supranuclear Palsy with Blepharospasm. [PDF]

Mov Disord Clin Pract, 2023
Onder H, Comoglu S.
europepmc   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations

Movement Disorders, EarlyView.
Abstract Background Spastic paresis, resulting from central nervous system lesions, significantly impairs functional performance. In the framework of the International Classification of Functioning, Disability, and Health, functional performance was defined as functioning at the activity level in relation to the impairment of body functions and ...
Martina Hoskovcova, Marjolaine Baude, Bo Biering‐Sørensen, Ota Gal, Mary P Galea, Jean‐Michel Gracies, Carmen Rodriguez‐Blazquez, Theodore Wein, Michelle Hyczy de Siqueira Tosin, Álvaro Sánchez‐Ferro, Tiago A Mestre, Matej Skorvanek, Robert Jech, The members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study Group   +13 more
wiley   +1 more source

Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions. [PDF]

Mov Disord Clin Pract, 2023
Fonte J, Machado C, Oliveira J, Magalhães M.   +3 more
europepmc   +1 more source

Safety and patient satisfaction of abobotulinumtoxinA for aesthetic use. A systematic review [PDF]

, 2017
A systematic review of the published literature (from January 2000 to January 2016) to ascertain the safety of, and patient satisfaction with, the aesthetic use of abobotulinumtoxinA was conducted.
Cohen, Joel L, Scuderi, Nicolo'
core   +1 more source

Holmes Tremor with Dystonia after Parietal and Premotor Ischemic Stroke in an Essential Tremor Patient: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Luca Angelini, Rick C.G. Helmich
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source