Research Output

Filter
Article
2017

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Baertling, F., Al-Murshedi, F., Sánchez-Caballero, L., Al-Senaidi, K., Joshi, N. P., Venselaar, H., van den Brand, M. A., Nijtmans, L. G. & Rodenburg, R. J., 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2016

Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel, M., Al Mutairi, F., Makhseed, N., Al Jasmi, F., Al-Thihli, K., Al-Jishi, E., AlSayed, M., Al-Hassnan, Z. N., Al-Murshedi, F., Häberle, J., Ben-Omran, T. & Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG), Mar 31 2016, In : Therapeutics and Clinical Risk Management. 12, p. 479-487 9 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)

Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease

Scott, P., Bruwer, Z., Al-Kharusi, K., Meftah, D. & Al-Murshedi, F., May 1 2016, In : Oman Medical Journal. 31, 3, p. 227-230 4 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Recurrent episodes of stroke in a young adult: Answer

Nandhagopal, R., Al-Murshedi, F., Weiss, S. & Friday, D., Feb 1 2016, In : Journal of Clinical Neuroscience. 24, p. 170 1 p.

Research output: Contribution to journalArticle

Recurrent episodes of stroke in a young adult: Question

Nandhagopal, R., Al-Murshedi, F., Weiss, S. & Friday, D., Feb 1 2016, In : Journal of Clinical Neuroscience. 24, p. 123 1 p.

Research output: Contribution to journalArticle

2015

Liver disease and other comorbidities in Wolcott-Rallison syndrome: Different phenotype and variable associations in a large cohort

Habeb, A. M., Deeb, A., Johnson, M., Abdullah, M., Abdulrasoul, M., Al-Awneh, H., Al-Maghamsi, M. S. F., Al-Murshedi, F., Al-Saif, R., Al-Sinani, S., Ramadan, D., Tfayli, H., Flanagan, S. E. & Ellard, S., Apr 24 2015, In : Hormone Research in Paediatrics. 83, 3, p. 190-197 8 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)

Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings

Al-Sinani, S., Al-Yaarubi, S., Sharef, S. W., Al-Murshedi, F. & Al-Maamari, W., 2015, In : Oman Medical Journal. 30, 2, p. 138-141 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2014

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 others, Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325 11 p.

Research output: Contribution to journalArticle

29 Citations (Scopus)
2 Citations (Scopus)
2013

Clinical spectrum of hereditary spastic paraplegia in children: A study of 74 cases

Koul, R., Al-Murshedi, F. M., Al-Azri, F. M., Mani, R., Abdelrahim, R. A., Koul, V. & Alfutaisi, A. M., Aug 2013, In : Sultan Qaboos University Medical Journal. 13, 3, p. 371-379 9 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)
2011

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Al-Mayouf, S. M., Sunker, A., Abdwani, R., Abrawi, S. A., Almurshedi, F., Alhashmi, N., Al Sonbul, A., Sewairi, W., Qari, A., Abdallah, E., Al-Owain, M., Al Motywee, S., Al-Rayes, H., Hashem, M., Khalak, H., Al-Jebali, L. & Alkuraya, F. S., Dec 2011, In : Nature Genetics. 43, 12, p. 1186-1188 3 p.

Research output: Contribution to journalArticle

175 Citations (Scopus)
2005

The phenotypic spectrum of Baraitser-Winter syndrome: A new case and review of literature

Ganesh, A., Al-Kindi, A., Jain, R. & Raeburn, S., Dec 2005, In : Journal of AAPOS. 9, 6, p. 604-606 3 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)