Results 61 to 70 of about 9,500,261 (386)

Clinical outcome measures following plasma exchange for MG exacerbation

Annals of Clinical and Translational Neurology, 2019
Our objective is to report longitudinal results of the MG‐ADL, MG‐Composite, MG‐MMT, and MG‐QoL15 in an open‐label trial of therapeutic plasma exchange in myasthenia gravis.
Shruti M. Raja, James F. Howard Jr, Vern C. Juel, Janice M. Massey, Manisha Chopra, Jeffrey T. Guptill   +5 more
doaj   +1 more source

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature Communications, 2022
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist ...
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly   +22 more
doaj   +1 more source

Intraperitoneal Injection of Neonatal Mice

Bio-Protocol, 2023
Administration of substances into neonatal mice is required for early treatment with pre-clinical therapeutics, delivery of recombination-inducing substances, and dosing with viruses or toxins, amongst other things.
Amanda Pocratsky, James Sleigh
doaj   +1 more source

Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGF(delta/delta) mouse model of amyotrophic lateral sclerosis [PDF]

, 2010
Background: Vascular endothelial growth factor (VEGF) is an endothelial cell mitogen that stimulates vasculogenesis. It has also been shown to act as a neurotrophic factor in vitro and in vivo.
Bender, F.L.P., Brockington, A., Carmeliet, P., Claes, F., Heath, P.R., Holden, H., Kasher, P., Lambrechts, D., Sendtner, M., Shaw, P.J.   +9 more
core   +4 more sources

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +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

Cystic Ovarian Teratoma: Clinical and Radiographic Insights Into Chronic Pelvic Pain

Aging and Cancer, EarlyView.
An incidental benign mature cystic ovarian teratoma on imaging and discuss common imaging modalities. ABSTRACT In this case report, we present the clinical course of an 88‐year‐old woman with chronic pelvic pain attributed to an incidental benign mature cystic ovarian teratoma on imaging and discuss common imaging modalities and discussions with ...
Hashim U. Ali, Fahad H. Malik, Mohammad M. Zia, Ashar Ahmed, Mahfujul Z. Haque, Masood Siddiqui   +5 more
wiley   +1 more source

Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

Molecules, 2017
Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy are neurodegenerative genetic diseases characterized primarily by muscle weakness and wasting.
V. Sardone, Haiyan Zhou, F. Muntoni, A. Ferlini, M. Falzarano   +4 more
semanticscholar   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source