Cargando…

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis

OBJECTIVE: To assess the association between copy number (CN) variation in the survival motor neuron (SMN) locus and multifocal motor neuropathy (MMN), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS) susceptibility and to determine the association of SMN1 and SMN2 CN with MMN...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bos, Jeroen W., Groen, Ewout J.N., Wadman, Renske I., Curial, Chantall A.D., Molleman, Naomi N., Zegers, Marinka, van Vught, Paul W.J., Snetselaar, Reinier, Vijzelaar, Raymon, van der Pol, W. Ludo, van den Berg, Leonard H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220964/ https://www.ncbi.nlm.nih.gov/pubmed/34169148 http://dx.doi.org/10.1212/NXG.0000000000000598

Ejemplares similares

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy
por: Wadman, Renske I, et al.
Publicado: (2020)

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent
por: Vijzelaar, Raymon, et al.
Publicado: (2019)

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy
por: Wadman, Renske I., et al.
Publicado: (2019)

Anti-C2 Antibody ARGX-117 Inhibits Complement in a Disease Model for Multifocal Motor Neuropathy
por: Budding, Kevin, et al.
Publicado: (2021)

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls
por: Wadman, Renske I., et al.
Publicado: (2016)

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy
por: Hunter, Gillian, et al.
Publicado: (2016)

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology
por: Thompson, Luke W., et al.
Publicado: (2018)

Innovating spinal muscular atrophy models in the therapeutic era
por: Signoria, Ilaria, et al.
Publicado: (2023)

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
por: Bernabò, Paola, et al.
Publicado: (2017)

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
por: Groen, Ewout J N, et al.
Publicado: (2018)

Intravenous Immunoglobulin Treatment in Multifocal Motor Neuropathy
por: van der Pol, W.-Ludo, et al.
Publicado: (2010)

Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study
por: Wijngaarde, Camiel A., et al.
Publicado: (2018)

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration
por: Groen, Ewout J.N., et al.
Publicado: (2015)

Human immune globulin 10% with recombinant human hyaluronidase in multifocal motor neuropathy
por: Herraets, Ingrid J. T., et al.
Publicado: (2019)

Associated autoimmune diseases in patients with multifocal motor neuropathy and their family members
por: Cats, Elisabeth A., et al.
Publicado: (2011)

Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study
por: Scheijmans, Féline E V, et al.
Publicado: (2022)

SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy
por: Lauria, Fabio, et al.
Publicado: (2020)

A continuous repetitive task to detect fatigability in spinal muscular atrophy
por: Stam, Marloes, et al.
Publicado: (2018)

Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study
por: Otto, Louise A.M., et al.
Publicado: (2021)

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration
por: Arnold, W. David, et al.
Publicado: (2016)

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
por: Moisse, Matthieu, et al.
Publicado: (2021)

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
por: Šoltić, Darija, et al.
Publicado: (2020)

A small molecule antagonist of SMN disrupts the interaction between SMN and RNAP II
por: Liu, Yanli, et al.
Publicado: (2022)

MRI shows thickening and altered diffusion in the median and ulnar nerves in multifocal motor neuropathy
por: Haakma, Wieke, et al.
Publicado: (2016)

Multi-ethnic Cytochrome-P450 Copy Number Profiling: Novel Pharmacogenetic Alleles and Mechanism of Copy Number Variation Formation
por: Martis, Suparna, et al.
Publicado: (2012)

Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling
por: Sen, Anindya, et al.
Publicado: (2011)

Solution structure of the core SMN–Gemin2 complex
por: Sarachan, Kathryn L., et al.
Publicado: (2012)

Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
por: Yoshimoto, Satomi, et al.
Publicado: (2016)

CORRIGENDUM to Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
Publicado: (2020)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
por: Hensel, Niko, et al.
Publicado: (2020)

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
por: Stabley, Deborah L, et al.
Publicado: (2015)

Complement activity is associated with disease severity in multifocal motor neuropathy
por: Vlam, Lotte, et al.
Publicado: (2015)

The Diagnostic Utility of Determining Anti-GM1: GalC Complex Antibodies in Multifocal Motor Neuropathy: A Validation Study
por: Galban-Horcajo, Francesc, et al.
Publicado: (2015)

Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology
por: Wang, Yiran, et al.
Publicado: (2019)

SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members
por: Binda, Olivier, et al.
Publicado: (2022)

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
por: Yalcintepe, Sinem, et al.
Publicado: (2023)

Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects
por: Dimitriadi, Maria, et al.
Publicado: (2010)

Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway
por: Sánchez-Lanzas, Raúl, et al.
Publicado: (2017)

Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures
por: Pletto, Daniela, et al.
Publicado: (2018)

Progressive multifocal leukoencephalopathy in an immunocompetent patient
por: van der Kolk, Nicolien M., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_lr82kl6d7uoia5bavad52coio8