neuromuscular disease

Literature (5)

Literature for DOID 440: neuromuscular disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease., Abrams CK,Freidin MM,Verselis VK,Bennett MV,Bargiello TA, Dev Biol. May 4, 2001; 900(1):0012-1606.
Grp94 Regulates the Recruitment of Aneural AChR Clusters for the Assembly of Postsynaptic Specializations by Modulating ADF/Cofilin Activity and Turnover., Chan ZC,Deng L,Lee CW,Lee CW,Lee CW, eNeuro. September 8, 2020; 7(5):2373-2822.
Building neuromuscular junctions in vitro., Barbeau S,Tahraoui-Bories J,Legay C,Martinat C, Development. November 16, 2020; 147(22):1477-9129.
GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations., Hauf K,Barsch L,Bauer D,Buchert R,Armbruster A,Frauenfeld L,Grasshoff U,Eulenburg V, Neurochem Int. October 1, 2020; 139:1872-9754.
An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somite organization., O'Neill AG,McCartney ME,Wheeler GM,Patel JH,Sanchez-Ramirez G,Kollman JM,Wills AE, Proc Natl Acad Sci U S A. December 9, 2025; 122(49):1091-6490.

Building neuromuscular junctions in vitro., Barbeau S,Tahraoui-Bories J,Legay C,Martinat C, Development. November 16, 2020; 147(22):1477-9129.

GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations., Hauf K,Barsch L,Bauer D,Buchert R,Armbruster A,Frauenfeld L,Grasshoff U,Eulenburg V, Neurochem Int. October 1, 2020; 139:1872-9754.

An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somite organization., O'Neill AG,McCartney ME,Wheeler GM,Patel JH,Sanchez-Ramirez G,Kollman JM,Wills AE, Proc Natl Acad Sci U S A. December 9, 2025; 122(49):1091-6490.