Search Results - "Costigan, Donal"

Distal hereditary motor neuropathy in association with OTX2-related disorder by Field, Robert, McHugh, John, Costigan Donal, Gibney, James, Murphy, Sinéad

“…BackgroundPathogenic sequence variants in OTX2 (orthodenticle homeobox 2) are associated with hypopituitarism, microphthalmia, retinal dystrophies and…”
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POLR3A-related disorders: expanding the clinical phenotype by McKenna, Mary Clare, O’Connor, Antoinette, Lockhart, Andrew, Bogdanova-Mihaylova, Petya, Brett, Francesca, Langan, Yvonne, Meaney, James, Costigan, Donal, Doherty, Colin P., Bede, Peter, Murphy, Sinéad M., Hutchinson, Siobhán

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Late‐onset Tay−Sachs disease presenting with a neuromuscular phenotype—a case series by Fullam, Sarah, Togher, Zara, Power, Alan, Kennelly, Laura, McHugh, John C., O'Dowd, Sean, Tubridy, Niall, Hardiman, Orla, Costigan, Donal, Ryan, Aisling, Lefter, Stela, Connolly, Sean, Murphy, Sinead M.

“…Background and purpose Tay−Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β‐hexosaminidase leads to…”
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Andersen–Tawil Syndrome With Early Fixed Myopathy by Lefter, Stela, Hardiman, Orla, Costigan, Donal, Lynch, Bryan, McConville, John, Hand, Collette K, Ryan, Aisling M

“…ABSTRACTAndersen–Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular…”
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Successful treatment of neuropathies in patients with diabetes mellitus by Krendel, D A, Costigan, D A, Hopkins, L C

“…To report and characterize two forms of disabling progressive peripheral neuropathy in patients with diabetes mellitus, which respond to anti-inflammatory…”
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Intracranial adenoid cystic carcinoma: Case report and review of the literature by Alleyne, Cargill H., Bakay, Roy A.E., Costigan, Donal, Thomas, Bill, Joseph, Greg J.

“…Adenoid cystic carcinoma (cylindroma) is a relatively common head and neck tumor that is slow growing, but locally aggressive and thus prone to recurrence. It…”
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Guillain‐Barré Syndrome by Costigan, Donal

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Spontaneous Kearns-Sayre/Chronic External Ophthalmoplegia Plus Syndrome Associated with a Mitochondrial DNA Deletion: A Slip-Replication Model and Metabolic Therapy by Shoffner, John M., Lott, Marie T., Voljavec, Alexander S., Soueidan, Shawke A., Costigan, Donal A., Wallace, Douglas C.

“…The muscle mitochondria of a patient with Kearns--Sayre/chronic external ophthalmoplegia plus syndrome were found to be completely deficient in respiratory…”
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Intramedullary spinal cord metastasis. A clinicopathological study of 13 cases by Costigan, D A, Winkelman, M D

“…A retrospective autopsy study of 627 patients with systemic cancer disclosed 153 patients with metastasis to the central nervous system (CNS) and 13 patients…”
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Nonvasculitic neuritis by Krendel, D A, Costigan, D A

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Polymyositis masquerading as motor neuron disease by Ryan, Aisling, Nor, Azli M, Costigan, Donal, Foley-Nolan, Daragh, El-Rafie, Ahmed, Farrell, Michael A, Hardiman, Orla

“…Several conditions have been reported to mimic motor neuron disease (MND), and misdiagnosis remains a common clinical problem. To report a case of bulbar-onset…”
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