Results 311 to 320 of about 9,384,569 (402)

Efficacy and Safety of IncobotulinumtoxinA for Treatment of Sialorrhea: A Multicenter, Phase 3 Study in Japan

Movement Disorders Clinical Practice, EarlyView.
This study demonstrated significant treatment efficacy and safety of incobotulinumtoxinA injection in Japanese patients with chronic sialorrhea caused by Parkinson's disease and other neurological conditions. Suppression of salivary secretion and improvement in drooling symptoms were also observed throughout 48 weeks.
Nobutaka Hattori, Yohei Mukai, Noriko Nishikawa, Kazuko Hasegawa, Masahiko Tomiyama, Yasuyoshi Kimura, Yoshio Tsuboi, Ryosuke Takahashi, Ryota Nakamura, Yuishin Izumi, Hirohisa Watanabe, Morinobu Seki, Kenji Sekiguchi, Shohei Tateishi, Yusaku Matsushita, Yusaku Nakamura   +15 more
wiley   +1 more source

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

Modeling neuromuscular diseases

Mathematical Modelling, 1986
openaire   +2 more sources

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, EarlyView.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Movement Disorders, EarlyView.
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey, Gilbert Thomas‐Black, Hector Garcia‐Moreno, David R. Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)   +9 more
wiley   +1 more source

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

Movement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze, Javeria Raza Alvi, Behnoosh Tasharrofi, Stephanie Efthymiou, Alexander Munchau, G. Christoph Korenke, Naif Almontashiri, Wafaa Eyaid, Amna Kashgari, Modhi Alotaibi, Jutta Gärtner, Brenda Huppke, Mostafa Asadollahi, Gocha Chikvinidze, Mohammad Keramatipour, Tipu Sultan, Holger Thiele, Peter Nürnberg, Markus H. Gräler, Henry Houlden, Peter Huppke   +24 more
wiley   +1 more source

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Biallelic loss‐of‐function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia—defined as involuntary movements of the mouth and tongue—is observed in various ...
Reza Maroofian, Juan Darío Ortigoza‐Escobar, Pooja Rohilla, Javeria Raza Alvi, Aziza M. Mushiba, Naif A.M. Almontashiri, Stephanie Efthymiou, Tipu Sultan, Tamas Balla, Henry Houlden   +9 more
wiley   +1 more source