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Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.
Published in:
Molecular Syndromology, 2021, v. 12, n. 4, p. 202, doi. 10.1159/000514437
By:
- Dierssen, Mara;
- Herault, Yann;
- Helguera, Pablo;
- Martínez de Lagran, Maria;
- Vazquez, Anna;
- Christian, Bradley;
- Carmona-Iragui, Maria;
- Wiseman, Frances;
- Mobley, William;
- Fisher, Elizabeth M.C.;
- Brault, Veronique;
- Esbensen, Anna;
- Jacola, Lisa M.;
- Potier, Marie Claude;
- Hamlett, Eric D.;
- Abbeduto, Leonard;
- del Hoyo Soriano, Laura;
- Busciglio, Jorge;
- Iulita, Maria Florencia;
- Crispino, John
Publication type:
Article
Novel Mouse Model of Autosomal Semidominant Adult Hypophosphatasia Has a Splice Site Mutation in the Tissue Nonspecific Alkaline Phosphatase Gene Akp2.
Published in:
Journal of Bone & Mineral Research, 2007, v. 22, n. 9, p. 1397, doi. 10.1359/JBMR.070515
By:
- Hough, Tertius A.;
- Polewski, Monika;
- Johnson, Kristen;
- Cheeseman, Michael;
- Nolan, Patrick M.;
- Vizor, Lucie;
- Rastan, Sohaila;
- Boyde, Alan;
- Pritzker, Kenneth;
- Hunter, A. Jackie;
- Fisher, Elizabeth M.C.;
- Terkeltaub, Robert;
- Brown, Steve D.M.
Publication type:
Article
Genealogies of mouse inbred strains.
Published in:
Nature Genetics, 2000, v. 24, n. 1, p. 23, doi. 10.1038/71641
By:
- Beck, Jon A.;
- Lloyd, Sarah;
- Hafezparast, Majid;
- Lennon-Pierce, Moyha;
- Eppig, Janan T.;
- Festing, Michael F.W.;
- Fisher, Elizabeth M.C.
Publication type:
Article
An unusual presentation for SOD1-ALS: Isolated facial diplegia.
Published in:
Muscle & Nerve, 2013, v. 48, n. 6, p. 994, doi. 10.1002/mus.23958
By:
- Fratta, Pietro;
- Hanna, Michael G.;
- Fisher, Elizabeth M.C.;
- Sidle, Katie
Publication type:
Article
Molecular Genetic Characterisation of Frontotemporal Dementia on Chromosome 3.
Published in:
Dementia & Geriatric Cognitive Disorders, 1999, v. 10, p. 93, doi. 10.1159/000051222
By:
- Ashworth, Anthony;
- Lloyd, Sarah;
- Brown, Jeremy;
- Gydesen, Susanne;
- Sorensen, S. Asger;
- Brun, Arne;
- Englund, Elisabet;
- Humphreys, Christine;
- Housman, David;
- Badura, Mary;
- Stanton Jr., Vincent;
- Taylor, Kay;
- Cameron, Jessica;
- Munroe, David;
- Johansson, Jenni;
- Rossor, Martin;
- Fisher, Elizabeth M.C.;
- Collinge, John
Publication type:
Article
Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse.
Published in:
Cardiovascular Research, 2010, v. 88, n. 2, p. 287, doi. 10.1093/cvr/cvq193
By:
- Dunlevy, Louisa;
- Bennett, Mike;
- Slender, Amy;
- Lana-Elola, Eva;
- Tybulewicz, Victor L.;
- Fisher, Elizabeth M.C.;
- Mohun, Timothy
Publication type:
Article
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2342, doi. 10.1093/brain/awt097
By:
- Saccon, Rachele A.;
- Bunton-Stasyshyn, Rosie K. A.;
- Fisher, Elizabeth M.C.;
- Fratta, Pietro
Publication type:
Article
Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition.
Published in:
Nature Communications, 2013, v. 4, n. 11, p. 2816, doi. 10.1038/ncomms3816
By:
- Anstee, Quentin M.;
- Knapp, Susanne;
- Maguire, Edward P.;
- Hosie, Alastair M.;
- Thomas, Philip;
- Mortensen, Martin;
- Bhome, Rohan;
- Martinez, Alonso;
- Walker, Sophie E.;
- Dixon, Claire I.;
- Ruparelia, Kush;
- Montagnese, Sara;
- Kuo, Yu-Ting;
- Herlihy, Amy;
- Bell, Jimmy D.;
- Robinson, Iain;
- Guerrini, Irene;
- McQuillin, Andrew;
- Fisher, Elizabeth M.C.;
- Ungless, Mark A.
Publication type:
Article
A novel phenotype for the dynein heavy chain mutation Loa: Altered dendritic morphology, organelle density, and reduced numbers of trigeminal motoneurons.
Published in:
Journal of Comparative Neurology, 2012, v. 520, n. 12, p. 2757, doi. 10.1002/cne.23085
By:
- Wiggins, Larisa M.;
- Kuta, A.;
- Stevens, James C.;
- Fisher, Elizabeth M.C.;
- von Bartheld, Christopher S.
Publication type:
Article
Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 9, p. 1709, doi. 10.1093/hmg/ddt017
By:
- Ahmed, Md. Mahiuddin;
- Dhanasekaran, A. Ranjitha;
- Tong, Suhong;
- Wiseman, Frances K.;
- Fisher, Elizabeth M.C.;
- Tybulewicz, Victor L.J.;
- Gardiner, Katheleen J.
Publication type:
Article
Six generations of CHMP2B‐mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Published in:
Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 529, doi. 10.1111/ane.13578
By:
- Roos, Peter;
- Johannsen, Peter;
- Lindquist, Suzanne G.;
- Brown, Jeremy M.;
- Waldemar, Gunhild;
- Duno, Morten;
- Nielsen, Troels T.;
- Budtz‐Jørgensen, Esben;
- Gydesen, Susanne;
- Holm, Ida E.;
- Collinge, John;
- Isaacs, Adrian M.;
- Nielsen, Jørgen E.;
- Gade, Anders;
- Stokholm, Jette;
- Thusgaard, Tove;
- Fisher, Elizabeth M.C.;
- Englund, Elisabet
Publication type:
Article
Affordable optical clearing and immunolabelling in mouse brain slices.
Published in:
BMC Research Notes, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13104-023-06511-y
By:
- Muza, Phillip M.;
- Pérez, Marta;
- Noy, Suzanna;
- Kurosawa, Miyu;
- Katsouri, Loukia;
- Tybulewicz, Victor L. J.;
- Fisher, Elizabeth M.C.;
- West, Steven J.
Publication type:
Article
A new mouse mutant, skijumper.
Published in:
Mammalian Genome, 2002, v. 13, n. 7, p. 359, doi. 10.1007/pl00021068
By:
- Hafezparast, Majid;
- Ball, Simon;
- Nicholson, Sharon J.;
- Witherden, Abi;
- Arac, Demet;
- Broadway, Neil;
- Saggerson, David;
- Cooper, Edwin;
- Naase, Mahmoud;
- Gokhale, Stephen;
- Quant, Patti;
- Lascelles, Carol;
- Nickols, Carole;
- Baker, Cathy S.;
- Peters, Josephine;
- Martin, Joanne E.;
- Fisher, Elizabeth M.C.
Publication type:
Article
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228
By:
- Urwin, Hazel;
- Authier, Astrid;
- Nielsen, Jorgen E.;
- Metcalf, Daniel;
- Powell, Caroline;
- Froud, Kristina;
- Malcolm, Denise S.;
- Holm, Ida;
- Johannsen, Peter;
- Brown, Jeremy;
- Fisher, Elizabeth M.C.;
- van der Zee, Julie;
- Bruyland, Marc;
- Van Broeckhoven, Christine;
- Collinge, John;
- Brandner, Sebastian;
- Futter, Clare;
- Isaacs, Adrian M.
Publication type:
Article
Down syndrome—recent progress and future prospects.
Published in:
Human Molecular Genetics, 2009, v. 18, n. R1, p. R75, doi. 10.1093/hmg/ddp010
By:
- Wiseman, Frances K.;
- Alford, Kate A.;
- Tybulewicz, Victor L.J.;
- Fisher, Elizabeth M.C.
Publication type:
Article
Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 8, p. 1449, doi. 10.1093/hmg/ddp055
By:
- Galante, Micaela;
- Jani, Harsha;
- Vanes, Lesley;
- Daniel, Hervé;
- Fisher, Elizabeth M.C.;
- Tybulewicz, Victor L.J.;
- Bliss, Timothy V.P.;
- Morice, Elise
Publication type:
Article
New techniques to understand chromosome dosage: mouse models of aneuploidy.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 2, p. r103, doi. 10.1093/hmg/ddl179
By:
- Tybulewicz, Victor L.J.;
- Fisher, Elizabeth M.C.
Publication type:
Article
New techniques to understand chromosome dosage: mouse models of aneuploidy.
Published in:
Human Molecular Genetics, 2006, v. 15, n. suppl_2, p. R103, doi. 10.1093/hmg/ddl179
By:
- Tybulewicz, Victor L.J.;
- Fisher, Elizabeth M.C.
Publication type:
Article
Opinion: more mouse models and more translation needed for ALS.
Published in:
Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00619-2
By:
- Fisher, Elizabeth M.C.;
- Greensmith, Linda;
- Malaspina, Andrea;
- Fratta, Pietro;
- Hanna, Michael G.;
- Schiavo, Giampietro;
- Isaacs, Adrian M.;
- Orrell, Richard W.;
- Cunningham, Thomas J.;
- Arozena, Abraham Acevedo
Publication type:
Article
Mighty Mice.
Published in:
Nature, 2000, v. 404, n. 6780, p. 815, doi. 10.1038/35009167
By:
- Festing, Michael F.W.;
- Fisher, Elizabeth M.C.
Publication type:
Article
An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 8, p. 1474
By:
- Yulug, Isik G.;
- Katsanis, Nicholas;
- de Belleroche, Jacqueline;
- Collinge, John;
- Fisher, Elizabeth M.C.
Publication type:
Article
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 6, p. 1101
By:
- Yulug, Isik G.;
- Katsanis, Nicholas;
- de Belleroche, Jacqueline;
- Collinge, John;
- Fisher, Elizabeth M.C.
Publication type:
Article
Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 11, p. 1978
By:
- Schmitt, Karin;
- Vollrath, Douglas;
- Foote, Simon;
- Fisher, Elizabeth M.C.;
- Page, David C.;
- Amheim, Norman
Publication type:
Article

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