Works matching IS 13646745 AND DT 2018 AND VI 19 AND IP 3

Results: 8

R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome.

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 179, doi. 10.1007/s10048-018-0552-x

By:

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

Publication type:

Article

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

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 189, doi. 10.1007/s10048-018-0553-9

By:

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

Publication type:

Article

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

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 205, doi. 10.1007/s10048-018-0551-y

By:

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

Publication type:

Article

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

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 165, doi. 10.1007/s10048-018-0550-z

By:

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

Publication type:

Article

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.

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 151, doi. 10.1007/s10048-018-0549-5

By:

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

Publication type:

Article

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

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 157, doi. 10.1007/s10048-018-0548-6

By:

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

Publication type:

Article

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

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 145, doi. 10.1007/s10048-018-0547-7

By:

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

Publication type:

Article

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

Published in:

Neurogenetics, 2018, v. 19, n. 3, p. 135, doi. 10.1007/s10048-018-0546-8

By:

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

Publication type:

Article