Authors:
Thiselton, DL
Alexander, C
Morris, A
Brooks, S
Rosenberg, T
Eiberg, H
Kjer, B
Kjer, P
Bhattacharya, SS
Votruba, M
Citation: Dl. Thiselton et al., A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect, HUM GENET, 109(5), 2001, pp. 498-502
Authors:
Gong, YQ
Slee, RB
Fukai, N
Rawadi, G
Roman-Roman, S
Reginato, AM
Wang, HW
Cundy, T
Glorieux, FH
Lev, D
Zacharin, M
Oexle, K
Marcelino, J
Suwairi, W
Heeger, S
Sabatakos, G
Apte, S
Adkins, WN
Allgrove, J
Arslan-Kirchner, M
Batch, JA
Beighton, P
Black, GCM
Boles, RG
Boon, LM
Borrone, C
Brunner, HG
Carle, GF
Dallapiccola, B
De Paepe, A
Floege, B
Halfhide, ML
Hall, B
Hennekam, RC
Hirose, T
Jans, A
Juppner, H
Kim, CA
Keppler-Noreuil, K
Kohlschuetter, A
LaCombe, D
Lambert, M
Lemyre, E
Letteboer, T
Peltonen, L
Ramesar, RS
Romanengo, M
Somer, H
Steichen-Gersdorf, E
Steinmann, B
Sullivan, B
Superti-Furga, A
Swoboda, W
van den Boogaard, MJ
Van Hul, V
Vikkula, M
Votruba, M
Zabel, B
Garcia, T
Baron, R
Olsen, BR
Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Authors:
Teplan, V
Schuck, O
Votruba, M
Poledne, R
Kazdova, L
Skibova, J
Maly, J
Citation: V. Teplan et al., Metabolic effects of keto acid - amino acid supplementation in patients with chronic renal insufficiency receiving a low-protein diet and recombinanthuman erythropoietin - A randomized controlled trial, WIEN KLIN W, 113(17-18), 2001, pp. 661-669
Authors:
Alexander, C
Votruba, M
Pesch, UEA
Thiselton, DL
Mayer, S
Moore, A
Rodriguez, M
Kellner, U
Leo-Kottler, B
Auburger, G
Bhattacharya, SS
Wissinger, B
Citation: C. Alexander et al., OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28, NAT GENET, 26(2), 2000, pp. 211-215
Authors:
Votruba, M
Leary, S
Losseff, N
Bhattacharya, SS
Moore, AT
Miller, DH
Moseley, IF
Citation: M. Votruba et al., MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy, NEURORADIOL, 42(3), 2000, pp. 180-183
Authors:
Holder, GE
Votruba, M
Carter, AC
Bhattacharya, SS
Fitzke, FW
Moore, AT
Citation: Ge. Holder et al., Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter, DOC OPHTHAL, 95(3-4), 1998, pp. 217-228