Results 181 to 190 of about 605,611 (288)

Optical Stimulation and Monitoring of the Peripheral Nervous System: Perspectives and Challenges Toward Clinical Translation

Laser &Photonics Reviews, EarlyView.
Optical neuromodulation with IR light allows stimulation of the PNS without the need for physical contact with the target nerve or without requiring any genetic modification. The clinical translation of this technique will pave the way to the development of neural interfaces for restoring sensory feedback in individuals with limb amputation.
Federica Piccirillo, Sarassunta Ucci, Anna Aliberti, Patrizio Vaiano, Alessia La Rocca, Francesca Angelone, Silvia Pascarella, Pellegrino Lippiello, Maria Concetta Miniaci, Giuseppe Prisco, Michela Russo, Francesco Amato, Deyanira Contartese, Milena Fini, Gianluca Giavaresi, Lucia Martini, Francesco Rosa, Cosimo Gentile, Emanuele Gruppioni, Armando Ricciardi, Andrea Cusano   +20 more
wiley   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

The effect of GIP and GLP-2 on bone turnover in children with cerebral palsy or spinal muscular atrophy. [PDF]

J Endocr Soc
Christiansen CB, Skov-Jeppesen K, Naume MM, Myrup S, Høj A, Gasbjerg LS, Holst JJ, Hoei-Hansen CE, Ørngreen MC, Rosenkilde MM, Hartmann B.   +10 more
europepmc   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy. [PDF]

Ann Neurol
D'Silva A, Herbert K, Balaji L, He JM, Kandula T, Sampaio HA, Teoh HL, Tantsis E, Sohn J, Briggs N, Ning N, Kiernan MC, Kariyawasam DS, Farrar MA.   +13 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment. [PDF]

RNA Biol
Singh NN, Ottesen EW, Singh RN.
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Longitudinal multi-omics profiling of spinal muscular atrophy. [PDF]

Neurotherapeutics
Dabaj I, Nguyen THY, Lagrue E, Ducatez F, Allouche S, Ausseil J, Seferian A, Gomez-Garcia de la Banda M, Benezit A, Phelep A, Chouchane M, Vasseur S, Chapart M, Marret S, Quijano Roy S, Tebani A, Bekri S.   +16 more
europepmc   +1 more source

Screening for spinal muscular atrophy

Medical Journal of Australia, 2018
Sampaio, H, Wilcken, B, Farrar, M
openaire   +3 more sources

Breathe, Eat, Talk: Three Essential Ingredients to Quality‐of‐Life Outcomes in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Breathing, eating, and talking (BET) impairments are common yet frequently underrecognized features of movement disorders. Deficits in respiration, swallowing, voice, and speech may emerge early in the course of a disease, adversely affecting safety, participation, and quality of life.
John Dean, Lena C. O’Flynn, Michelle Ciucci, Cynthia Fox, Jessica E. Huber, Supraja Anand, Maira Rozenfeld Olchik, Jibrin S. Usman, Adam P. Vogel, Bettina Aguiar, Diana Khasanova, Dharshini Manoharan, Lorraine Ramig, Angela Roberts, Federico Rodriguez‐Porcel, Kristina Simonyan, Julie M. Barkmeier‐Kraemer   +16 more
wiley   +1 more source