Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy von Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul

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Multisystem pathology in McLeod syndrome von Schon, Katherine R., O'Donovan, Dominic G., Briggs, Mayen, Rowe, James B., Wijesekera, Lokesh, Chinnery, Patrick F., Ameele, Jelle

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A rare presentation of rapidly progressing myopathy in an adolescent von Pepys, Jack, Borchert, Robin J, Thambirajah, Narmathy, Daruwalla, Cyrus, Apostolopoulos, Dimitrios, O’Donovan, Dominic G, Ham, Timothy, Brierley, Charlotte

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Feasibility Study of Human Corneal Endothelial Cell Transplantation Using an In Vitro Human Corneal Model von Rolev, Kostadin, OʼDonovan, Dominic G, Coussons, Peter, King, Linda, Rajan, Madhavan S

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Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice von Rubinsztein, David C, Davies, Janet E, Wang, Lin, Garcia-Oroz, Lourdes, Cook, Lynnette J, Vacher, Coralie, O'Donovan, Dominic G

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Giant intracranial hemangioma in a neonate von Jalloh, Ibrahim, Dean, Andrew F., O’Donovan, Dominic G., Cross, Justin, Garnett, Matthew R., Santarius, Thomas

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Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I) von Houlden, Henry, King, Rosalind, Blake, Julian, Groves, Mike, Love, Seth, Woodward, Cathy, Hammans, Simon, Nicoll, James, Lennox, Graham, O'Donovan, Dominic G., Gabriel, Carolyn, Thomas, P. K., Reilly, Mary M.

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Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNAGlu (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and... von Lax, Nichola Z, Gnanapavan, Sharmilee, Dowson, Sarah J, Alston, Charlotte L, He, Langping, Polvikoski, Tuomo M, Jaros, Evelyn, O’Donovan, Dominic G, Yarham, John W, Turnbull, Douglass M, Dean, Andrew F, Taylor, Robert W

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Considerations in establishing a post-mortem brain and tissue bank for the study of myalgic encephalomyelitis/chronic fatigue syndrome: a proposed protocol von Nacul, Luis, O'Donovan, Dominic G, Lacerda, Eliana M, Gveric, Djordje, Goldring, Kirstin, Hall, Alison, Bowman, Erinna, Pheby, Derek

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Neurenteric cyst of the anterior cranial fossa: case report and literature review von Little, Mark W., Guilfoyle, Mathew R., Bulters, Diederik O., Scoffings, Daniel J., O’Donovan, Dominic G., Kirkpatrick, Peter J.

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Stroke in a 53-year-old woman: getting to the heart of the problem von Pearce, Alexander W, Rana, Bushra S, O’Donovan, Dominic G

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Identification of Prdm genes in human corneal endothelium von Rolev, Kostadin, O'Donovan, Dominic G., Georgiou, Christiana, Rajan, Madhavan S., Chittka, Alexandra

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Minimally Invasive Excision of Lumbar Tophaceous Gout: Case Report von Vergara, Pierluigi, O'Donovan, Dominic G

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Selective impairment of verb processing associated with pathological changes in Brodmann areas 44 and 45 in the motor neurone disease–dementia–aphasia syndrome von Bak, Thomas H., O'Donovan, Dominic G., Xuereb, John H., Boniface, Simon, Hodges, John R.

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Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type I (HSAN I) von HOULDEN, Henry, KING, Rosalind, GABRIEL, Carolyn, THOMAS, P. K, REILLY, Mary M, BLAKE, Julian, GROVES, Mike, LOVE, Seth, WOODWARD, Cathy, HAMMANS, Simon, NICOLL, James, LENNOX, Graham, O'DONOVAN, Dominic G

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Lesson of the month. (2). Stroke in a 53-year-old woman: getting to the heart of the problem. Diagnosis. LA myxoma von Pearce, Alexander W, Rana, Bushra S, O'Donovan, Dominic G

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Molecular Pathology of the Pituitary von O’Donovan, Dominic G.

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Successful treatment of residual pituitary adenoma in persistent acromegaly following localisation by 11C-methionine PET co-registered with MRI von Koulouri, Olympia, Kandasamy, Narayanan, Hoole, Andrew C, Gillett, Daniel, Heard, Sarah, Powlson, Andrew S, O’Donovan, Dominic G, Annamalai, Anand K, Simpson, Helen L, Akker, Scott A, Aylwin, Simon J B, Brooke, Antonia, Buch, Harit, Levy, Miles J, Martin, Niamh, Morris, Damian, Parkinson, Craig, Tysome, James R, Santarius, Tom, Donnelly, Neil, Buscombe, John, Boros, Istvan, Smith, Rob, Aigbirhio, Franklin, Antoun, Nagui M, Burnet, Neil G, Cheow, Heok, Mannion, Richard J, Pickard, John D, Gurnell, Mark

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Arachnoid Cyst of the Craniocervical Junction: Case Report von Price, Stephen J., David, Karoly M., O’Donovan, Dominic G., Aspoas, A. Robert

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lesson of the month (2) von Pearce, Alexander W, Rana, Bushra S, O'Donovan, Dominic G

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