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Zeitschrift

neurogenetics

neurogenetics 3/2018

Ausgabe 3/2018

Inhaltsverzeichnis ( 8 Artikel )

05.05.2018 | Original Article | Ausgabe 3/2018

Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene

A. Afek, L. Tagliafierro, O.C. Glenn, D.B. Lukatsky, R. Gordan, O. Chiba-Falek

12.05.2018 | Original Article | Ausgabe 3/2018

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Maria Steenhof, Maria Kibæk, Martin J. Larsen, Mette Christensen, Allan Meldgaard Lund, Klaus Brusgaard, Jens Michael Hertz

28.05.2018 | Original Article | Ausgabe 3/2018

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, Kristin Bokelmann, Markus A. Schirmer, Jonas Denecke, René Santer

30.05.2018 | Original Article | Ausgabe 3/2018

Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause

Chin-An Yang, I-Ching Chou, Der-Yang Cho, Chien-Yu Lin, Hsi-Yuan Huang, Yu-Chen Ho, Ting-Yuan Liu, Ying-Hsuan Li, Jan-Gowth Chang

12.06.2018 | Original Article | Ausgabe 3/2018

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes

Zied Landoulsi, Fatma Laatar, Eric Noé, Saloua Mrabet, Mouna Ben Djebara, Guillaume Achaz, Caroline Nava, Stéphanie Baulac, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider, Eric Leguern

03.07.2018 | Original Article | Ausgabe 3/2018

R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome

A. Catania, R. Battini, T. Pippucci, R. Pasquariello, M. L. Chiapparini, M. Seri, B. Garavaglia, G. Zorzi, N. Nardocci, D. Ghezzi, V. Tiranti

07.07.2018 | Original Article | Ausgabe 3/2018

FUS(1-359) transgenic mice as a model of ALS: pathophysiological and molecular aspects of the proteinopathy

Sergei Y. Funikov, Alexander P. Rezvykh, Pavel V. Mazin, Alexey V. Morozov, Andrey V. Maltsev, Maria M. Chicheva, Ekaterina A. Vikhareva, Mikhail B. Evgen’ev, Aleksey A. Ustyugov

20.06.2018 | Original Article | Ausgabe 3/2018

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

R. C. Caylor, L. Grote, I. Thiffault, E. G. Farrow, L. Willig, S. Soden, S. M. Amudhavalli, A. J. Nopper, K. A. Horii, E. Fleming, J. Jenkins, H. Welsh, M. Ilyas, K. Engleman, A. Abdelmoity, C. J. Saunders

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