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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700.
J Clin Endocrinol Metab. 2021.
PMID: 33005949
Free PMC article.
An uncooled IR sensor with digital focal plane array.
White T, Butler N, Murphy R.
White T, et al.
IEEE Eng Med Biol Mag. 1998 Jul-Aug;17(4):60-5. doi: 10.1109/51.687965.
IEEE Eng Med Biol Mag. 1998.
PMID: 9672812
No abstract available.
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Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family.
Bogdanova-Mihaylova P, Murphy RPJ, Alexander MD, McHugh JC, Foley AR, Brett F, Murphy SM.
Bogdanova-Mihaylova P, et al. Among authors: murphy rpj.
Eur J Neurol. 2018 Feb;25(2):e22-e23. doi: 10.1111/ene.13532.
Eur J Neurol. 2018.
PMID: 29356258
No abstract available.
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Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.
Bogdanova-Mihaylova P, Alexander MD, Murphy RPJ, Murphy SM.
Bogdanova-Mihaylova P, et al. Among authors: murphy rpj.
J Peripher Nerv Syst. 2017 Sep;22(3):219-223. doi: 10.1111/jns.12221.
J Peripher Nerv Syst. 2017.
PMID: 28544110
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SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient.
Bogdanova-Mihaylova P, Alexander MD, Murphy RP, Murphy SM.
Bogdanova-Mihaylova P, et al.
J Peripher Nerv Syst. 2015 Jun;20(2):86-7. doi: 10.1111/jns.12123.
J Peripher Nerv Syst. 2015.
PMID: 26292973
No abstract available.
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X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Murphy SM, Ovens R, Polke J, Siskind CE, Laurà M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM.
Murphy SM, et al.
Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6.
Neuromuscul Disord. 2012.
PMID: 22483671
Free PMC article.
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Acute pseudobulbar palsy due to methotrexate with rapid response to intravenous immunoglobulin.
Kinirons P, Fortune A, Enright H, Murphy RP.
Kinirons P, et al.
J Neurol. 2005 Nov;252(11):1401-3. doi: 10.1007/s00415-005-0836-6.
J Neurol. 2005.
PMID: 16314998
No abstract available.
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