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Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

• Authors : Minocherhomji, Sheroy; Hansen, Claus; Kim, Hyung-Goo

Subjects: Male; Cerebellar Ataxia; Translocation

• Source: Hum Mol GenetHuman Molecular GeneticsMinocherhomji, S, Hansen, C, Kim, H G, Mang, Y, Bak, M, Guldberg, P, Papadopoulos, N, Eiberg, H, Doh, G D, Mollgard, K,

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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

• Authors : Marsha Speevak; Paul D. Arnold; Mohammed Uddin ...

Subjects: Receptors, Cell Surface/genetics; Male; Autism

• Source: Lionel, A C, Tammimies, K, Vaags, A K, Rosenfeld, J A, Ahn, J W, Merico, D, Noor, A, Runke, C K, Pillalamarri, V K, Carter, M T, Gazzellone, M J, Thiruvahindrapuram, B, Fagerberg, C R, Laulund, L W,

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Disruption of the neurexin 1 gene is associated with schizophrenia

• Authors : Toulopoulou, T; Wiersma, D; Murray, R ...

Subjects: Adult; Male; 0301 basic medicine

• Source: Human Molecular Genetics; VolHuman Molecular GeneticsHuman Molecular Genetics, 18, 5, pp.

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Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex

• Authors : Jacob Souopgui; Leonardus Van Grunsven; Joël Vandekerckhove ...

Subjects: 0301 basic medicine; HISTONE DEACETYLASE; Embryo, Nonmammalian

• Source: HUMAN MOLECULAR GENETICS

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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

• Authors : van der Zee, Julie; Urwin, Hazel; Engelborghs, Sebastiaan ...

Subjects: Male; 0301 basic medicine; ESCRT-III

• Source: Human molecular geneticsHUMAN MOLECULAR GENETICS

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Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1

• Authors : Goold, Robert; Hubank, Michael; Hunt, Abigail

Subjects: Male; 0301 basic medicine; Transcription, Genetic

• Source: Human Molecular Genetics. 16:2122-2134

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Early and reversible neuropathology induced by tetracycline-regulated lentiviral overexpression of mutant huntingtin in rat striatum

• Authors : Regulier, E.; Trottier, Yvon; Perrin, Valérie ...

Subjects: 0301 basic medicine; Doxycycline/chemistry; Dopamine and cAMP-Regulated Phosphoprotein 32

• Source: Human Molecular GeneticsHuman Molecular Genetics, Oxford University Press (OUP), 2003, 12 (21), pp.2827-2836.

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Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

• Authors : Kenneth H. Fischbeck; Louis J. Ptáček; Deborah M. Gagnon ...

Subjects: Spinocerebellar Degenerations/genetics; Adult; Male

• Source: Human Molecular Genetics. 7:525-532

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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

• Authors : Willemsen, R. (Rob); Unen, L. (Leontine) van; Tassone, F. (Flora)

Subjects: RNA-Binding Proteins; Trinucleotide Repeat Expansion; Animals

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Instability of a (CGG)98 repeat in the Fmr1 promoter

• Authors : Bontekoe, C.J.M. (Carola); Bakker, C.E. (Cathy); Nieuwenhuizen, I.M. (Ingeborg)

Subjects: Promoter Regions (Genetics); RNA-Binding Proteins; Trinucleotide Repeats

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