Results 91 to 100 of about 12,639 (247)

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) [PDF]

, 2015
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and the leading genetic cause of death in infants. Despite the disease-causing gene, survival motor neuron (SMN1), encodes a ubiquitous protein, SMN1 deficiency preferentially affects ...
Ciafrè, S, Farace, M, Luchetti, A, Malgieri, A, Masotti, A, Murdocca, M, Novelli, G, Sanchez, M, Sangiuolo, F   +8 more
core   +2 more sources

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Molecular and Cellular Probes, 2010
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused in about 95% of SMA patients by homozygous deletion of the survival motor neuron 1 (SMN1) gene or its conversion to the highly homologous SMN2 gene. In the majority of cases, disease severity correlates inversely with increased SMN2 copy number.
PASSON N, DUBSKY DE WITTENAU G, JURMAN I, RADOVIC S, BREGANT E, MOLINIS C, DAMANTE, Giuseppe, LONIGRO, Incoronata   +7 more
openaire   +3 more sources

Observation of forbidden phonons and dark excitons by resonance Raman scattering in few-layer WS$_2$

, 2017
The optical properties of the two-dimensional (2D) crystals are dominated by tightly bound electron-hole pairs (excitons) and lattice vibration modes (phonons).
Liu, Xue-Lu, Sun, Yu-Jia, Tan, Ping-Heng, Tan, Qing-Hai, Xiong, Qihua, Zhang, Jun, Zhao, Yanyuan   +6 more
core   +1 more source

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie, Christe, Martine, Handschin, Christoph   +2 more
core   +1 more source

Population Physiologically‐Based Pharmacokinetic Modeling to Determine Ontogeny: A Quantitative Clinical Pharmacology Example in Pediatric Rare Disease

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 2, February 2026.
ABSTRACT Pediatric physiologically‐based pharmacokinetic (PBPK) modelling plays an increasing role in selecting doses in children and addressing clinical pharmacology questions. Ethical concerns often limit clinical pharmacology studies that have no direct therapeutic benefit in children, highlighting the value of PBPK model predictions.
Yumi Cleary, Bhagwat Prasad, Kayode Ogungbenro, Michael Gertz, Aleksandra Galetin   +4 more
wiley   +1 more source

CLINICAL CASE OF KUGELBERG – WELANDER DISEASE (SPINAL MUSCULAR ATROPHY TYPE III)

Байкальский медицинский журнал
Background. Differential diagnosis of neuromuscular diseases is one of the most difficult areas in neurology. Molecular genetic research in these patients is of particular importance.
Yu. N. Bykov, Yu. N. Vasyliev, T. N. Zagvozkina, I. V. Anikina, T. A. Tarasova, S. V. Vasilkova, Yu. S. Plekhanova   +6 more
doaj   +1 more source

The Duchess of Malfi (1969) [PDF]

, 1969
Playwright: John Webster Director: Hal Todd Set Design: J. Wendell Johnson Costumes: Berneice Prisk Lighting: Paul Myrvold Academic Year: 1968-1969https://scholarworks.sjsu.edu/productions_1960s/1011/thumbnail ...
San Jose State University, Theatre Arts
core   +1 more source

The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

Molecular Genetics & Genomic Medicine, 2022
Background Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one of
Gardenier Ware, Cecelia Miller, Dan Jones, Matthew Avenarius   +3 more
doaj   +1 more source