de Coo IF - Search Results

1

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.

de Coo IF, Smeets HJ, Gabreëls FJ, Arts N, van Oost BA. de Coo IF, et al. Am J Hum Genet. 1996 Mar;58(3):636-8. Am J Hum Genet. 1996. PMID: 8644724 Free PMC article. No abstract available.

2

Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON.

Spruijt L, Hoogendijk JE, Hendrickx AT, de Coo IF, Doevendans PA, de Jong PT, Spliet WG, Kroes H, Smeets HJ. Spruijt L, et al. Among authors: de coo if, de jong pt. Am J Med Genet A. 2006 Jul 1;140(13):1478-81. doi: 10.1002/ajmg.a.31324. Am J Med Genet A. 2006. PMID: 16770803 No abstract available.

3

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Breedveld G, et al. Among authors: de coo if. J Med Genet. 2006 Jun;43(6):490-5. doi: 10.1136/jmg.2005.035584. Epub 2005 Aug 17. J Med Genet. 2006. PMID: 16107487 Free PMC article.

4

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. Blok MJ, et al. Among authors: de coo if, de die smulders ce, de visser m. J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578034

5

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934

6

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. Speksnijder L, et al. Among authors: de coo if. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633388

7

Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen.

de Coo IF, Gabreëls FJ, Renier WO, de Pont JJ, van Haelst UJ, Veerkamp JH, Trijbels JM, Jaspar HH, Renkawek K. de Coo IF, et al. Among authors: de pont jj. Clin Neuropathol. 1991 Mar-Apr;10(2):73-8. Clin Neuropathol. 1991. PMID: 2054980

8

Canavan disease: value of N-acetylaspartic aciduria?

de Coo IF, Bakkeren JA, Gabreëls FJ. de Coo IF, et al. Neuropediatrics. 1991 May;22(2):III. Neuropediatrics. 1991. PMID: 1857492 No abstract available.

9

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, Naess K, de Coo IFM, Nascimento Osorio A, Nuutinen M, Lindberg C, Bindoff LA, Tulinius M, Darin N, Sofou K. Parasyri M, et al. Among authors: de coo ifm. Kidney Dis (Basel). 2022 Jan 24;8(2):148-159. doi: 10.1159/000521148. eCollection 2022 Mar. Kidney Dis (Basel). 2022. PMID: 35527992 Free PMC article.

10

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients.

Haast RAM, De Coo IFM, Ivanov D, Khan AR, Jansen JFA, Smeets HJM, Uludağ K. Haast RAM, et al. Among authors: de coo ifm. Brain Commun. 2022 Feb 3;4(1):fcac024. doi: 10.1093/braincomms/fcac024. eCollection 2022. Brain Commun. 2022. PMID: 35187487 Free PMC article.

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