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Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12846
By:
- Folland, Chiara;
- Johnsen, Russell;
- Botero Gomez, Adriana;
- Trajanoski, Daniel;
- Davis, Mark R.;
- Moore, Ursula;
- Straub, Volker;
- Barresi, Rita;
- Guglieri, Michela;
- Hayhurst, Hannah;
- Schaefer, Andrew M.;
- Laing, Nigel G.;
- Lamont, Philipa J.;
- Ravenscroft, Gianina
Publication type:
Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
By:
- Hayhurst, Hannah;
- de Coo, Irenaeus F. M.;
- Piekutowska‐Abramczuk, Dorota;
- Alston, Charlotte L.;
- Sharma, Sunil;
- Thompson, Kyle;
- Rius, Rocio;
- He, Langping;
- Hopton, Sila;
- Ploski, Rafal;
- Ciara, Elzbieta;
- Lake, Nicole J.;
- Compton, Alison G.;
- Delatycki, Martin B.;
- Verrips, Aad;
- Bonnen, Penelope E.;
- Jones, Simon A.;
- Morris, Andrew A.;
- Shakespeare, David;
- Christodoulou, John
Publication type:
Article
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.
Published in:
Brain Pathology, 2019, v. 29, n. 1, p. 97, doi. 10.1111/bpa.12640
By:
- Hayhurst, Hannah;
- Anagnostou, Maria‐Eleni;
- Bogle, Helen J.;
- Grady, John P.;
- Taylor, Robert W.;
- Bindoff, Laurence A.;
- McFarland, Robert;
- Turnbull, Doug M.;
- Lax, Nichola Z.
Publication type:
Article

Found: 3

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.