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Results 11-20 of 43 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2013
Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patients
Young-Gqamana, B.
;
Brignol, N.
;
Chang, H.
;
Khanna, R.
;
Soska, R.
;
Fuller, M.
;
Sitaraman, S.
;
Germain, D.
;
Giugliani, R.
;
Hughes, D.
;
Mehta, A.
;
Nicholls, K.
;
Boudes, P.
;
Lockhart, D.
;
Valenzano, K.
;
Benjamin, E.
;
Schiffmann, R.
2013
Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta, V.
;
Ravenscroft, G.
;
Shaheen, R.
;
Todd, E.
;
Swanson, L.
;
Shiina, M.
;
Ogata, K.
;
Hsu, C.
;
Clarke, N.
;
Darras, B.
;
Farrar, M.
;
Hashem, A.
;
Manton, N.
;
Muntoni, F.
;
North, K.
;
Sandaradura, S.
;
Nishino, I.
;
Hayashi, Y.
;
Sewry, C.
;
Thompson, E.
;
et al.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2013
Characterization of mutants of a highly cross-reactive calcium-binding protein from Brassica pollen for allergen-specific immunotherapy
Garmatiuk, T.
;
Swoboda, I.
;
Twardosz-Kropfmüller, A.
;
Dall’Antonia, F.
;
Keller, W.
;
Singh, M.B.
;
Bhalla, P.L.
;
Okada, T.
;
Toriyama, K.
;
Weber, M.
;
Ghannadan, M.
;
Sperr, W.R.
;
Blatt, K.
;
Valent, P.
;
Klein, B.
;
Niederberger, V.
;
Curin, M.
;
Balic, N.
;
Spitzauer, S.
;
Valenta, R.
2014
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
Lee, K.
;
Mattiske, T.
;
Kitamura, K.
;
Gecz, J.
;
Shoubridge, C.
2013
RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility
O'Bryan, M.
;
Clark, B.
;
McLaughlin, E.
;
D'Sylva, R.
;
O'Donnell, L.
;
Wilce, J.
;
Sutherland, J.
;
O'Connor, A.
;
Whittle, B.
;
Goodnow, C.
;
Ormandy, C.
;
Jamsai, D.
;
Barsh, G.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
Discover
Author
16
Gecz, J.
12
et al.
6
Mulley, J.
5
Gardner, A.
5
Shaw, M.
4
Buchanan, G.
4
Corbett, M.
4
Jolly, L.
4
Thomas, P.
4
Tilley, W.
.
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Subject
34
Female
28
Mice
20
Pedigree
14
Intellectual Disability
14
Molecular Sequence Data
11
Amino Acid Sequence
7
Base Sequence
7
Brain
7
Phenotype
6
Adult
.
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Date issued
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2020 - 2021
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2010 - 2019
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2000 - 2009
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1995 - 1999