Results 71 to 80 of about 79,478 (306)

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

Social determinants of health and health-related quality of life in individuals with isolated dystonia

Dystonia
Background and objectivesDystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the healthy population.
Caroline Nelson, Christopher D. Stephen, Christopher D. Stephen, Ellen B. Penney, Ellen B. Penney, Hang Lee, Hang Lee, Elyse R. Park, Elyse R. Park, Nutan Sharma, Nutan Sharma, Marisela E. Dy-Hollins, Marisela E. Dy-Hollins   +12 more
doaj   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

An Adult with Episodic Abnormal Limb Posturing [PDF]

, 2018
info:eu-repo/semantics ...
Costa, C, Leitão, L, Lobo, P, Rebordão, L, Santos, M   +4 more
core   +1 more source

The Emerging Parkinson's Disease Oxylipin‐Ome

Advanced Science, EarlyView.
ABSTRACT Parkinson Disease (PD) is increasingly considered a proteinopathy and lipidopathy. This proteinopathy+lipidopathy paradigm has been further refined to a fatty acid (FA)‐opathy, centering dysregulated FA metabolism as fundamental in PD lipid dysfunction.
Julia C. Kelliher, Saranna Fanning
wiley   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

How to use pen and paper tasks to aid tremor diagnosis in the clinic [PDF]

, 2017
When a patient presents with tremor, it can be useful to perform a few simple pen and paper tests. In this article, we explain how to maximise the value of handwriting and of drawing Archimedes spirals and straight lines as clinical assessments.
Deborah Thorpe, Jane Alty, Jeremy Cosgrove, Peter Kempster   +3 more
core   +2 more sources

Psychogenic Dystonia

Human Physiology, 2017
Psychogenic movement disorders pose a complex problem inmodern neurology that requires using the interdisciplinary approachto solve a number of questions related to classification, diagnosis,treatment, and rehabilitation. The most frequent formsof psychogenic movement disorders include tremor, dystonia,myoclonus, and gait abnormality.
Olga A. Shavlovskaya, А. I. Baidauletova   +1 more
openaire   +2 more sources

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

Advanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters, Lorenzo Signorelli, Christian Herff, Sophia Gimple, Renzo Riemens, Gunter Kenis, Kim Rijkers, Hamed Shabani, Jyh‐Jang Sun, Yasin Temel, Hans Clusmann, Danijela Gregurec, Sarah‐Anna Hescham   +12 more
wiley   +1 more source

Voluntary movement takes shape. the link between movement focusing and sensory input gating [PDF]

, 2018
The aim of the study was to investigate the relationship between motor surround inhibition (mSI) and the modulation of somatosensory temporal discrimination threshold (STDT) induced by voluntary movement.
Belvisi, Daniele, Berardelli, Alfredo, Conte, Antonella, Cortese, Francesca Natalia, Li Voti, Pietro, Manzo, Nicoletta, Suppa, Antonio, Tartaglia, Matteo   +7 more
core   +1 more source