Results 101 to 110 of about 4,914,372 (218)

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Development, Test and Validation of a Mechatronic Device for Spasticity Quantification

International Journal of Advanced Robotic Systems, 2013
Spasticity is a common pathological phenomenon in clinical practices, frequently expressed as a stroke, multiple sclerosis or cerebral palsy. The accurate quantification of spasticity allows early action to prevent the potentially irreversible ...
João F. Ferreira, Vitor Moreira, Carlos S. Lima, Filomena Soares, José Machado, Celina P. Leão   +5 more
doaj   +1 more source

Technologically-advanced assessment of upper-limb spasticity: a pilot study.

European Journal of Physical and Rehabilitation Medicine, 2018
BACKGROUND Spasticity is a muscle disorder associated with upper motor neuron syndrome occurring in neurological disorders, such as stroke, multiple sclerosis, spinal cord injury and others.
F. Posteraro, S. Crea, S. Mazzoleni, M. Berteanu, Ileana Ciobanu, N. Vitiello, M. Cempini, Sabata Gervasio, N. Mrachacz‐Kersting   +8 more
semanticscholar   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

The relationship between spasticity in young children (18 months of age) with cerebral palsy and their gross motor function development

BMC Musculoskeletal Disorders, 2009
Background It is thought that spasticity has an influence on the development of functional motor abilities among children with cerebral palsy (CP). The extent to which spasticity is associated with the change in motor abilities in young children with CP ...
Verschuren Olaf, Gorter Jan, van Riel Laura, Ketelaar Marjolijn   +3 more
doaj   +1 more source

Assessment of quality of life in relation to spasticity severity and socio-demographic and clinical factors among patients with spinal cord injury

Journal of Spinal Cord Medicine (JSCM), 2018
Objective: To assess the impact of spasticity severity as well as socio-demographic and clinical factors on quality of life (QOL) and to identify factors predicting poor QOL among patients with spinal cord injury (SCI) Design: Descriptive cross-sectional
M. Vural, E. Yalçınkaya, Evrim Coşkun Çelik, B. Gunduz, Ahmet Bozan, B. Erhan   +5 more
semanticscholar   +1 more source

Increased Lower Limb Spasticity but Not Strength or Function Following a Single-Dose Serotonin Reuptake Inhibitor in Chronic Stroke [PDF]

, 2015
Objective: To investigate the effects of single doses of a selective serotonin reuptake inhibitor (SSRI) on lower limb voluntary and reflex function in individuals with chronic stroke. Design: Double-blind, randomized, placebo-controlled crossover trial.
Gourab, Krishnaj, Hornby, T. George, Schmit, Brian D.   +2 more
core   +1 more source

Assessment of upper limb spasticity in stroke patients using the robotic device REAplan.

Journal of Rehabilitation Medicine, 2017
OBJECTIVE  To assess the capacity of the robotic device REAplan to measure overall upper limb peak resistance force, as a reflection of upper limb spasticity.
Stéphanie Dehem, M. Gilliaux, T. Lejeune, C. Detrembleur, D. Galinski, J. Sapin, M. Vanderwegen, G. Stoquart   +7 more
semanticscholar   +1 more source

Do Diagnostic Nerve Blocks Affect the Starting Dose of Botulinum Neurotoxin Type A for Spasticity? A Case-Control Study

Toxins
One of the aims of diagnostic nerve blocks is to identify the overactive muscles that lead to a specific spasticity pattern. However, to date, there is no evidence on how nerve blocks may affect botulinum neurotoxin-A (BoNT-A) dose in patients with ...
Mirko Filippetti, Stefano Tamburin, Rita Di Censo, Roberto Aldegheri, Elisa Mantovani, Stefania Spina, Marco Battaglia, Alessio Baricich, Andrea Santamato, Nicola Smania, Alessandro Picelli   +10 more
doaj   +1 more source

Assessing muscle architecture with ultrasound: implications for spasticity

European Journal of Translational Myology
Botulinum Neurotoxin Type A (BoNT-A) injections using Ultrasound (US) guidance have led to research evaluating changes in muscle architecture. Controversy remains as to what constitutes increased Echo-Intensity (EI) in spastic muscles and whether this may affect outcomes.
Ève Boissonnault, April Hyon, Michael C. Munin, Mirko Filippetti, Alessandro Picelli, Chloe Haldane, Rajiv Reebye   +6 more
openaire   +3 more sources