V. M. James

发表

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

S. Haas, M. Topf, V. Kalscheuer, 2016, Front. Mol. Neurosci..

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

Markus Wolff, Saskia Biskup, M. Schwake, 2014, Annals of neurology.

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease*

M. Topf, R. Shiang, A. Manzur, 2012, The Journal of Biological Chemistry.

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses

K. Kawakami, M. Suster, A. Bode, 2018, Front. Mol. Neurosci..

Distinct phenotypes in zebrafish models of human startle disease

M. Topf, R. Kozol, R. Harvey, 2013, Neurobiology of Disease.

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

R. Delorme, C. Gillberg, M. Leboyer, 2016, Molecular Psychiatry.

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

M. Topf, R. Thomas, A. Bode, 2013, Neurobiology of Disease.

A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2*

Enrique J. Fernandez-Sanchez, M. Topf, P. Lapunzina, 2012, Journal of Biological Chemistry.

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

M. Topf, R. Harvey, V. M. James, 2012, Biological chemistry.

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

P. Tarpey, R. Stevenson, C. Schwartz, 2016, Front. Mol. Neurosci..