Results 211 to 220 of about 35,756 (272)

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

Facial lymphatic malformation: the root cause of trigeminal neuralgia is not its root. Illustrative case. [PDF]

J Neurosurg Case Lessons
Sopchokchai I, Ho BKH, Radziunas A, Lang ST, Heran MKS, Honey CR.   +5 more
europepmc   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Differential Progression of Neuroinflammation in Patients with Isolated Rapid‐Eye‐Movement Sleep Behavior Disorder

Movement Disorders, EarlyView.
Abstract Background Neuroinflammation, measured using [11C](R)‐PK11195 positron emission tomography (PET), has been reported in isolated rapid‐eye‐movement sleep behavior disorder (iRBD), but its temporal progression is unknown. Objective The aim was to assess longitudinal progression of neuroinflammation in iRBD patients and its relationship with ...
Andreas Myhre Baun, Alex Iranzo, Miriam Højholt Terkelsen, Rainer Hinz, Morten Gersel Stokholm, Kristian Stær, Mónica Serradel, Marit Otto, Kristina Bacher Svendsen, Alicia Garrido, Dolores Vilas, Arne Møller, Carles Gaig, Eduardo Tolosa, David J. Brooks, Per Borghammer, Simon Fristed Eskildsen, Nicola Pavese   +17 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

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

Tips for Accurate Beath Pin Length Measurement While Using an Arthroscopic Jig to Avoid Neurovascular Injury Due to Over Penetration (Hit-Pat's Method). [PDF]

J Orthop Case Rep
Patil HG, Pimprikar MV, Patil CK.
europepmc   +1 more source