Publications by authors named "Minna Toivonen"

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Report of a Novel Homozygous Intragenic Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.
Elisa Rahikkala, Taneli Väisänen, Liisa Ojala, Pia Pohjola, Minna Toivonen

Mol Syndromol· March 2024

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Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
John N Milligan, Jessica L Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Minna Toivonen

J Mol Diagn· June 2021

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Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
Minna Toivonen, Maaria Tringham, Johanna Kurko, Perttu Terho, Olli Simell

Gen Physiol Biophys· December 2013

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OGT and OGA expression in postmenopausal skeletal muscle associates with hormone replacement therapy and muscle cross-sectional area.
Minna H M Toivonen, Eija Pöllänen, Maarit Ahtiainen, Harri Suominen, Dennis R Taaffe

Exp Gerontol· December 2013

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Heterodimerization of y(+)LAT-1 and 4F2hc visualized by acceptor photobleaching FRET microscopy.
Maaria Kleemola, Minna Toivonen, Juha Mykkänen, Olli Simell, Kirsi Huoponen

Biochim Biophys Acta· October 2007

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Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).
Juha Mykkänen, Minna Toivonen, Maaria Kleemola, Marja-Liisa Savontaus, Olli Simell

Biochem Biophys Res Commun· February 2003

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Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
Minna Toivonen, Juha Mykkänen, Pertti Aula, Olli Simell, Marja-Liisa Savontaus

Biochem Biophys Res Commun· March 2002

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