Results 81 to 90 of about 19,843 (235)

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy [PDF]

, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
A Brockington, A Kaplan, A Neve, AH Bhat, AM Blokhuis, Anna A. L. Motyl, B Schrank, B Wirth, C Cifuentes-Diaz, C Fallini, C Fallini, C Fallini, Catherina G. Becker, CC Xu, CL Lorson, D Frey, D Zala, Derek Thomson, DG Nicholls, E Mercuri, E Somers, E Somers, EA Schon, EJ Groen, EJ Groen, Ewout J. N. Groen, FR Jornayvaz, G Acsadi, G Hamilton, G Le Masson, Gregory A. Cox, H Flanagan-Steet, Hannah K. Shorrock, HM Hsieh-Li, J Giacomotto, J Hegedus, J. Robin Highley, JE Taylor, JJ Harris, JM Dale, JM Flanagan, JN Sleigh, K Hasegawa, K See, KC Kanning, KJ Spiller, KK Ling, KK Ling, L Comley, L Kong, Laura C. Graham, LM Murray, LM Murray, M Dimitriadi, M Riessland, M Ripolone, M Westerfield, ML McWhorter, N Miller, N Noel, Nicholas M. Morton, P Verstreken, Paul R. Heath, Penelope J. Boyd, Q Cai, Q Liu, R Martinez-Hernandez, R Tejero, RA Powis, RA Powis, Rachael A. Powis, Roderick N. Carter, S Hosseinibarkooie, S Jang, S Kariya, S Lefebvre, S Massenet, S Saxena, S Saxena, SL Eaton, Sophie R. Thomson, SR Thomson, T Hao le, T Uetsuki, T Voigt, Thomas Becker, Thomas H. Gillingwater, Thomas M. Wishart, TM Wishart, TW Tefera, U Fischer, UR Monani, UR Monani, V Chavan, V Link, V Luzzi, W Rossoll, Wen-Yo Tu, X Chen, Y Morisaki   +99 more
core   +5 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy

PLoS ONE, 2013
Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting progression, (ii) designing trials that allow rapid assessment of candidate therapies, and (iii) understanding molecular causes and consequences of the disease.
Dione T Kobayashi, Jing Shi, Laurie Stephen, Karri L Ballard, Ruth Dewey, James Mapes, Brett Chung, Kathleen McCarthy, Kathryn J Swoboda, Thomas O Crawford, Rebecca Li, Thomas Plasterer, Cynthia Joyce, Biomarkers for Spinal Muscular Atrophy Study Group, Wendy K Chung, Petra Kaufmann, Basil T Darras, Richard S Finkel, Douglas M Sproule, William B Martens, Michael P McDermott, Darryl C De Vivo, Pediatric Neuromuscular Clinical Research Network, Michael G Walker, Karen S Chen   +24 more
openaire   +6 more sources

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care

Arquivos de Neuro-Psiquiatria
Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça, Juliane Suellen Arndt de Godoi, Edmar Zanoteli   +2 more
doaj   +1 more source

Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity

JA Clinical Reports, 2020
Background Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy.
Sayo Nakao, Shinichi Yamada, Katsuya Tsuda, Taishi Yokomizo, Teruyuki Sato, Shuichi Tanoue, Teruyuki Hiraki   +6 more
doaj   +1 more source

Participation, environment, and quality of life in children with cerebral palsy and physical disabilities

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To compare and examine relationships between participation, environmental factors, and quality of life (QoL) in children with cerebral palsy and physical disability (CP/PD) and typically developing children. Method Participants were 59 children (6–12 years; 31 females): 30 with CP/PD (mean age 8 years 7 months, standard deviation 1 year 6 ...
Nava Gelkop, Batya Engel‐Yeger
wiley   +1 more source

Identification of pathways of degeneration and protection in motor neuron diseases [PDF]

, 2017
Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable
Nichterwitz, Susanne
core   +1 more source