Authors:
Barcellos, LF
Caillier, S
Dragone, L
Elder, M
Vittinghoff, E
Bucher, P
Lincoln, RR
Pericak-Vance, M
Haines, JL
Weiss, A
Hauser, SL
Oksenberg, JR
Citation: Lf. Barcellos et al., PTPRC (CD45) is not associated with the development of multiple sclerosis in US patients, NAT GENET, 29(1), 2001, pp. 23-24
Citation: Rs. Savkur et al., Aberrant regulation of insulin receptor alternative splicing is associatedwith insulin resistance in myotonic dystrophy, NAT GENET, 29(1), 2001, pp. 40-47
Authors:
Mazeyrat, S
Saut, N
Grigoriev, V
Mahadevaiah, SK
Ojarikre, OA
Rattigan, A
Bishop, C
Eicher, EM
Mitchell, MJ
Burgoyne, PS
Citation: S. Mazeyrat et al., A Y-encoded subunit of the translation initiation factor Eif2 is essentialfor mouse spermatogenesis, NAT GENET, 29(1), 2001, pp. 49-53
Authors:
de Lonlay, P
Valnot, I
Barrientos, A
Gorbatyuk, M
Tzagoloff, A
Taanman, JW
Benayoun, E
Chretien, D
Kadhom, N
Lombes, A
de Baulny, HO
Niaudet, P
Munnich, M
Rustin, P
Rotig, A
Citation: P. De Lonlay et al., A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure, NAT GENET, 29(1), 2001, pp. 57-60
Authors:
Zimprich, A
Grabowski, M
Asmus, F
Naumann, M
Berg, D
Bertram, M
Scheidtmann, K
Kern, P
Winkelmann, F
Muller-Myhsok, B
Riedel, L
Bauer, M
Muller, T
Castro, M
Meitinger, T
Strom, TM
Gasser, T
Citation: A. Zimprich et al., Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome, NAT GENET, 29(1), 2001, pp. 66-69
Authors:
Seeliger, MW
Grimm, C
Stahlberg, F
Friedburg, C
Jaissle, G
Zrenner, E
Guo, H
Reme, CE
Humphries, P
Hofmann, F
Biel, M
Fariss, RN
Redmond, TM
Wenzel, A
Citation: Mw. Seeliger et al., New views on RPE65 deficiency: the rod system is the source of vision in amouse model of Leber congenital amaurosis, NAT GENET, 29(1), 2001, pp. 70-74
Authors:
Grohmann, K
Schuelke, M
Diers, A
Hoffmann, K
Lucke, B
Adams, C
Bertini, E
Leonhardt-Horti, H
Muntoni, F
Ouvrier, R
Pfeufer, A
Rossi, R
Van Maldergem, L
Wilmshurst, JM
Wienker, TR
Sendtner, M
Rudnik-Schoneborn, S
Zerres, K
Hubner, C
Citation: K. Grohmann et al., Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1, NAT GENET, 29(1), 2001, pp. 75-77
Authors:
Cleary, MA
van Raamsdonk, CD
Levorse, J
Zheng, BH
Bradley, A
Tilghman, SM
Citation: Ma. Cleary et al., Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice, NAT GENET, 29(1), 2001, pp. 78-82
Authors:
Eisenberg, I
Avidan, N
Potikha, T
Hochner, H
Chen, M
Olender, T
Barash, M
Shemesh, M
Sadeh, M
Grabov-Nardini, G
Shmilevich, I
Friedmann, A
Karpati, G
Bradley, WG
Baumbach, L
Lancet, D
Ben Asher, E
Beckmann, JS
Argov, Z
Mitrani-Rosenbaum, S
Citation: I. Eisenberg et al., The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene ismutated in recessive hereditary inclusion body myopathy, NAT GENET, 29(1), 2001, pp. 83-87
Authors:
Parant, J
Chavez-Reyes, A
Little, NA
Yan, W
Reinke, V
Jochemsen, AG
Lozano, G
Citation: J. Parant et al., Rescue of embryonic lethality in Mdm4-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53, NAT GENET, 29(1), 2001, pp. 92-95
Citation: C. Le Stunff et al., Paternal transmission of the very common class IINSVNTR alleles predisposes to childhood obesity, NAT GENET, 29(1), 2001, pp. 96-99
Authors:
Spelbrink, JN
Li, FY
Tiranti, V
Nikali, K
Yuan, QP
Tariq, M
Wanrooij, S
Garrido, N
Comi, G
Morandi, L
Santoro, L
Toscano, A
Fabrizi, GM
Somer, H
Croxen, R
Beeson, D
Poulton, J
Suomalainen, A
Jacobs, HT
Zeviani, M
Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001), NAT GENET, 29(1), 2001, pp. 100-100
Citation: Jd. Lieb et al., Promoter-specific binding of Rap1 revealed by genome-wide maps of protein-DNA association (vol 28, pg 327, 2001), NAT GENET, 29(1), 2001, pp. 100-100