Alison M Muir

Alison M Muir

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Alison M Muir

Alison M Muir

Publications by authors named "Alison M Muir"

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Double somatic mosaicism in a child with Dravet syndrome.

Neurol Genet 2019 Jun 19;5(3):e333. Epub 2019 Apr 19.

Division of Genetic Medicine (A.M.M., A.S.B., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Paediatrics and Child Health (C.K.), University of Otago, Wellington, New Zealand; Department of Medicine (A.L.S., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Australia; The Florey Institute and Murdoch Children's Research Institute (I.E.S.), Parkville, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Australia; and Department of Paediatrics and Child Health (L.G.S.), University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1212/NXG.0000000000000333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481227PMC
June 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion.

Cell Rep 2017 07;20(4):923-934

Department of Cell and Regenerative Biology, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.06.090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562410PMC
July 2017

Essential Roles of Bone Morphogenetic Protein-1 and Mammalian Tolloid-like 1 in Postnatal Root Dentin Formation.

J Endod 2017 Jan 12;43(1):109-115. Epub 2016 Nov 12.

Biomedical Sciences, Texas A&M College of Dentistry, Dallas, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.joen.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5164841PMC
January 2017

BMP1-like proteinases are essential to the structure and wound healing of skin.

Matrix Biol 2016 12 27;56:114-131. Epub 2016 Jun 27.

Department of Cell and Regenerative Biology, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2016.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5136512PMC
December 2016

Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.

Hum Mol Genet 2014 Jun 12;23(12):3085-101. Epub 2014 Jan 12.

Department of Cell and Regenerative Biology, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA,

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http://dx.doi.org/10.1093/hmg/ddu013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030766PMC
June 2014