Publications:

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Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.

Nucleic Acids Research

Veepaschit, Jyotishman J; Viswanathan, Aravindan A; Bordonné, Rémy R; Grimm, Clemens C; Fischer, Utz U

Publication Date: 2021-07-21

Variant appearance in text: SMA: M263R

PubMed Link: 33754639

Variant Present in the following documents:

• Main text
• gkab158.pdf

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Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications

Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL

Publication Date: 2020

Variant appearance in text: SMN1: 788T>G; M263R

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf

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Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.

Frontiers In Molecular Neuroscience

Spring, Ashlyn M AM; Raimer, Amanda C AC; Hamilton, Christine D CD; Schillinger, Michela J MJ; Matera, A Gregory AG

Publication Date: 2019

Variant appearance in text: SMA: M263R

PubMed Link: 31156382

Variant Present in the following documents:

• Main text
• fnmol-12-00113.pdf

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SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

Plos Genetics

Praveen, Kavita K; Wen, Ying Y; Gray, Kelsey M KM; Noto, John J JJ; Patlolla, Akash R AR; Van Duyne, Gregory D GD; Matera, A Gregory AG

Publication Date: 2014-08

Variant appearance in text: SMA: M263R

PubMed Link: 25144193

Variant Present in the following documents:

• Main text
• pgen.1004489.pdf

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The survival motor neuron protein forms soluble glycine zipper oligomers.

Structure (London, England : 1993)

Martin, Renee R; Gupta, Kushol K; Ninan, Nisha S NS; Perry, Kay K; Van Duyne, Gregory D GD

Publication Date: 2012-11-07

Variant appearance in text: SMA: M263R

PubMed Link: 23022347

Variant Present in the following documents:

• Main text

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Nature Reviews. Neuroscience

Burghes, Arthur H M AH; Beattie, Christine E CE

Publication Date: 2009-08

Variant appearance in text: SMA: M263R

PubMed Link: 19584893

Variant Present in the following documents:

• Main text

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Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.

Results And Problems In Cell Differentiation

Rossoll, Wilfried W; Bassell, Gary J GJ

Publication Date: 2009

Variant appearance in text: SMA: M263R

PubMed Link: 19343312

Variant Present in the following documents:

• Main text

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