Results 141 to 150 of about 40,635 (255)

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

Lung Function and Respiratory Muscle Strength in Symptomatic Children and Adults With Spinal Muscular Atrophy Treated With Nusinersen. [PDF]

Neurology
Vercoelen F, Arts LAP, de Bruijne MEM, van Eijk RPA, Vermeer LM, Wadman RI, Verweij-van den Oudenrijn LP, Zoodsma RS, Cuppen I, Bartels B, Asselman FL, Wijngaarde CA, van der Pol WL, Veldhoen ES.   +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

Anterior Horn Cell Disease in Adulthood: Unmasking Spinal Muscular Atrophy Type 4. [PDF]

Cureus
Rafique S, Odeh A.
europepmc   +1 more source

Screening for spinal muscular atrophy

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

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

Access to care for adults living with spinal muscular atrophy in the UK. [PDF]

BMJ Neurol Open
Muni-Lofra R, Borland H, Nevin K, Rutherford A, Dungavel A, Michell-Sodhi J, Chatfield S, Pape K, Rose A, Fenty P, Martin G, Narayan S, Bartram E, Emery N, Marco MD, Manchester E, White N, Tomos H, Davies E, Morris F, Carver A, Karkkainen E, Page J, Norwood F, Davis H, Walters RJ, Dougan CF, Shanmugarajah PD, Farrugia ME, Willis TA, Brady S, Kiss-Csenki A, Merrison A, Sedehizadeh S, Brierley C, Davies NP, Galtrey CM, Parton M, Lilleker JB, Hewamadduma C, Bettolo CM.   +40 more
europepmc   +1 more source

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

Editorial: Neuromuscular disorders: biomarkers, precision diagnosis, and targeted therapeutics. [PDF]

Front Neurosci
Zafarullah M, Banerjee R, Singh A, Ghosh A, Almeida S.   +4 more
europepmc   +1 more source

Gray Matter Microstructure Measured Using Diffusion Imaging as a Biomarker of Severity in Lewy Body Diseases

Movement Disorders, EarlyView.
Abstract Background Despite widespread cortical involvement in Lewy body diseases, conventional gray matter magnetic resonance imaging (MRI) shows limited sensitivity. Diffusion‐weighted MRI‐derived microstructural measures have shown utility in Alzheimer's disease, but their application across the Lewy body disease spectrum remains limited ...
Angeliki Zarkali, Ivelina Dobreva, Naomi Hannaway, Rohan Bhome, George E.C. Thomas, Steffani Carrera, Amanda J. Heslegrave, Elena Veleva, Henrik Zetterberg, Rimona S. Weil   +9 more
wiley   +1 more source