Results 61 to 70 of about 982,510 (294)

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue

Orphanet Journal of Rare Diseases, 2022
Background The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the chronic course of these conditions,
Elisabetta Indelicato, Michael Zech, Matthias Amprosi, Sylvia Boesch   +3 more
doaj   +1 more source

Kinect as an access device for people with cerebral palsy: A preliminary study [PDF]

, 2017
Cerebral palsy (CP) describes a group of disorders affecting the development of movement and posture, causingactivity limitation. Access to technology can alleviate some of these limitations.
Cabrera Cabrera, Rafael, García de las Heras, Joaquín, Gómez González, Isabel María, Molina Cantero, Alberto Jesús   +3 more
core  

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing

FEBS Letters, EarlyView.
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley   +1 more source

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]

, 2014
Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Deciphering the effects of STN DBS on neuropsychiatric fluctuations in Parkinson’s disease

npj Parkinson's Disease
The impact of subthalamic nucleus (STN) deep brain stimulation (DBS) on neuropsychiatric fluctuations in Parkinson´s disease (PD) remains unclear. The Neuropsychiatric Fluctuations Scale (NFS) can help to fill this gap, directly measuring fluctuations ...
Mari Muldmaa, Emmanuelle Schmitt, Roberto Infante, Andrea Kistner, Valérie Fraix, Anna Castrioto, Sara Meoni, Pierre Pélissier, Bettina Debû, Elena Moro   +9 more
doaj   +1 more source

Movement disorders and syndromic autism: a systematic review [PDF]

, 2019
Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown.
Bell, L., Hare, D. J., Wittkowski, A.
core   +2 more sources

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Sensitivity and specificity of the finger tapping task for the detection of psychogenic movement disorders [PDF]

, 2010
Psychogenic movement disorders (PMD) represent a diagnostically challenging group of patients in movement disorders. Finger tapping tests (FTT) have been used in neuropsychiatric evaluations to identify psychogenic conditions, but their use in movement ...
Criswell, Susan, Evanoff, Bradley A., Racette, Brad A., Sterling, Callen, Swisher, Laura   +4 more
core   +2 more sources