Results 151 to 160 of about 33,878 (286)

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

Deconstructing meibomian gland dysfunction: a case for a more precise classification. [PDF]

Br J Ophthalmol
Galor A, Margolis T.
europepmc   +1 more source

Indirect Striatal Projection Neurons Drive a D2 Receptor‐Dependent Pathway to Dyskinesia and Dystonia

Movement Disorders, EarlyView.
D2 receptor ablation in indirect‐pathway striatal neurons reduces or abolishes dyskinetic and dystonic behaviors induced by L‐DOPA or D2 receptor agonists, respectively. Contralateral turning is reduced, while forward locomotion is increased. These effects are associated with modulation of neuronal activity in dorsal striatum and external globus ...
Laura Andreoli, Teodor Nyman, Elena Espa, Johan Jakobsson, Osama F. Elabi, Maria Angela Cenci   +5 more
wiley   +1 more source

Intrauterine stroke from a sword on the face - A rare diagnosis and its long-term sequelae. [PDF]

Indian J Ophthalmol
Kumar J, Agrawal S, Pushker N.
europepmc   +1 more source

Refractory Motor Complications: Towards a Pragmatic Definition

Movement Disorders Clinical Practice, EarlyView.
Georg Ebersbach, Tobias Warnecke
wiley   +1 more source

Spatiotemporal Progression Patterns of Striatal Dopamine Depletion and Cerebral Hypoperfusion in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The identification of Parkinson's disease (PD) subtypes is crucial for predicting the disease course and designing personalized therapeutic strategies. Objectives The aim of the study was to characterize the heterogeneity of the spatiotemporal evolutionary patterns of striatal dopamine depletion and cerebral hypoperfusion in PD ...
Yeeun Sun, Youngseok Choi, Chan Wook Park, Han Kyu Na, Hye Sun Lee, Yun Joong Kim, Young H. Sohn, Phil Hyu Lee, Jeyeon Lee, Seok Jong Chung   +9 more
wiley   +1 more source

Importance of Type and Direction of Eyelid Sliding to Mimic Blinking In Vitro for Dry Eye Disease and Contact Lens Research. [PDF]

Invest Ophthalmol Vis Sci
Chen Y, Kaper HJ, van Kooten T, Sharma PK.   +3 more
europepmc   +1 more source

A Static Phantom for Harmonization of Hyperpolarized [1–13C]Pyruvate Metabolic Magnetic Resonance Imaging

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To develop and characterize a static, reusable 13C phantom designed to assess and support the harmonization of MRI setups used for hyperpolarized (HP) [1‐13C]pyruvate imaging. Methods The phantom was designed as a 200‐mm‐diameter polycarbonate sphere filled with 8M natural abundance urea and incorporating distinct modules for assessing
Kristina P. Jacobsen, Ingeborg S. Skre, Rie B. Olin, Mathilde H. Lerche   +3 more
wiley   +1 more source

Postoperative Antibiotics Do Not Prevent Surgical Site Infections After Routine Ophthalmic Soft Tissue Surgeries in Dogs-A Retrospective Study. [PDF]

Vet Ophthalmol
Piroth AC, Busse C.
europepmc   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source