Results 41 to 50 of about 546,155 (300)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Gait simulation in children with cerebral palsy using a three-dimensional neuromuscular skeleton model

Nihon Kikai Gakkai ronbunshu, 2021
Cerebral palsy (CP) causes abnormal gait pattern due to increased stretch reflex and contracture in specific muscles. Increased stretch reflexes in CP are caused by increased activation of muscle spindles due to increased sensitivity of gamma motor ...
Ryosuke YUMOTO, Kazunori HASE, Akira YOSHIKAWA, SungHyek KIM   +3 more
doaj   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source

BLINK REFLEX IN MULTIPLE SCLEROSIS: AN ANCILLARY TEST FOR DETECTING BRAIN STEM LESIONS

Journal of Research in Medical Sciences, 2001
Introduction. Electrodiagnostic tests are one of the ancillary procedures that are used for diagnosis of multiple sclerosis (MS). This study investigates the frequency of abnormal blink reflex in patients with MS. Methods.
M ETEMEDYFAR, M SHIRAZADI, M.R NAJAFI, M HOSSEININEJAD   +3 more
doaj  

Blink reflex abnormalities in children with Tourette syndrome

European Journal of Neurology, 2006
Tourette syndrome (TS) is a common disorder which typically occurs during childhood or early adolescence. There is no definitive diagnostic test for TS. The objective of this study was to demonstrate whether neurophysiological abnormalities of the blink reflex can be observed in children with TS.
R. RAFFAELE, RAMPELLO, Liborio, VECCHIO, Ignazio, A. ALVANO, RIZZO, Renata, P. PAVONE, MACI, TIZIANA, PERCIAVALLE, Vincenzo   +7 more
openaire   +3 more sources

Role of Cerebellar Interpositus Nucleus in the Genesis and Control of Reflex and Conditioned Eyelid Responses [PDF]

, 2004
The role of cerebellar circuits in the acquisition of new motor abilities is still a matter of intensive debate. To establish the contribution of posterior interpositus nucleus (PIN) to the performance and/or acquisition of reflex and classically ...
Jimenez-Diaz, L, Navarro Lopez, JDD, Delgado-Garcia, JM, Gruart, A   +3 more
core  

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Bioengineered Interfaces for Peripheral Nerve Sensory Restoration

Advanced Materials, EarlyView.
Half of amputees abandon their prosthetics for lack of feeling. This review charts the full path from peripheral nerve injury to restored sensation, through surgical, regenerative, noninvasive, and implanted approaches, and shows how injury type and interface material properties determine which strategy can deliver naturalistic feedback, and why ...
Sydney Swedick, Salim El Hadwe, Kesi Liang, George G. Malliaras, Damiano G. Barone   +4 more
wiley   +1 more source

Yawning

Arquivos de Neuro-Psiquiatria, 1994
The ubiquitousness of normal yawning and the existence of abnormal yawning warrant an understanding of this reflex. Its mechanisms and functional role are not entirely known.
Flávio Alóe
doaj   +1 more source