Results 161 to 170 of about 48,653 (304)

Pediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report. [PDF]

Medicine (Baltimore)
Guo C, Zhu Y, Lu H, Liu K.
europepmc   +1 more source

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

Primary ciliary dyskinesia

, 2011
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with an incidence estimated between 1:2,000 and 1:40,000. Ciliated epithelia line the airways, nasal and sinus cavities, Eustachian tube and fallopian tubes.
Lucas, J S A, Walker, W T, Lazor, R, Kuehni, C E   +3 more
core  

Tardive Oropharyngeal Dyskinesia Associated With Antipsychotic Use in the Management of Behavioral and Psychological Symptoms of Dementia. [PDF]

J Med Cases
Zohari Z, Obet N, Mohd Zambri NH, Nadarajah R, Tunku Jaafar DTMS.   +4 more
europepmc   +1 more source

When the Scale Drops: Pathways to Weight Loss in Parkinson's Disease and Future Directions

Movement Disorders, EarlyView.
Abstract Although Parkinson's disease (PD) is classically defined by its motor features, non‐motor symptoms exert a substantial and often under‐recognized influence on disease trajectory. Among these, weight loss has long been observed in PD and other neurodegenerative disorders, yet the mechanisms remain incompletely understood.
Ellie D. Gabriel, Robert S. Eisinger, Joyce M. Lee, Sarah Hamimi, Hope Kim, Susanna D. Howard, Casey H. Halpern   +6 more
wiley   +1 more source

Risperidone for Tardive Dyskinesia

, 2009
To the Editor: Tardive dyskinesia is a serious and potentially debilitating problem for patients treated with conventional antipsychotics . The general treatment guideline for tardive dyskinesia is to change from treatment with conventional to atypical ...
白雅美;平烈勇;林朝誠, BAI, YA-MEI;PYNG, LEIN-YUNG;LIN, CHAO-CHENG   +1 more
core  

Clinical Outcomes and Predictors of Response to Levodopa-Entacapone-Carbidopa Intestinal Gel in Advanced Parkinson's Disease: A Retrospective Cohort Study over a 4-Year Period. [PDF]

Pharmaceutics
Orbán-Kis K, Szász RM, Szatmári S, Constantin VA, Bățagă SM, Szederjesi J, Ciorba IM, Nagy EE, Neagoe RM, Kelemen K, Szatmári S, Bíró KJ, Crăciun Ciorba N, Frigy A, Szász JA.   +14 more
europepmc   +1 more source

Putamen Atrophy as a Predictive Factor of Efficacy of GPi‐DBS in Dystonia‐Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy

Movement Disorders, EarlyView.
Abstract Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option ...
Marylou Grasso, Pierre‐Olivier Moser, Sidonie Sauvageot, Valérie Gil, Emilie Chan‐Seng, Emily Sanrey, Philippe Coubes, Gaëtan Poulen   +7 more
wiley   +1 more source

Dyskinesia following modafinil administration in a patient with autism spectrum disorder and narcolepsy: a case report. [PDF]

J Med Case Rep
Niijima K, Kume K, Murabayashi N, Wakai M.   +3 more
europepmc   +1 more source

Conditional Modeling of GNAO1 Disorder Dissociates Circuit Specific Contributions to Pathology and Rationalizes Ameliorative Strategies

Movement Disorders, EarlyView.
Abstract Background Neurodevelopmental disorders feature various symptoms that frequently include seizures and motor manifestations, but their attribution to disruptions of specific circuits and molecular alterations is notoriously hard to establish, which limits therapeutic interventions.
Gloria Brunori, Stefano Zucca, Colten K. Lankford, Yi‐Zhi Wang, Marianna Franco, Nina A. Alekseeva, Sevinj Ahmedova, Han My Van, Jeffrey N. Savas, Kirill A. Martemyanov   +9 more
wiley   +1 more source