de Visser M - Search Results

1

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

2

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ. van Den Bosch BJ, et al. Among authors: de coo rf, de visser m, de die smulders ce. Nucleic Acids Res. 2000 Oct 15;28(20):E89. doi: 10.1093/nar/28.20.e89. Nucleic Acids Res. 2000. PMID: 11024191 Free PMC article.

3

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA. Janssen EA, et al. Among authors: de die smulders ce, de visser m. Hum Genet. 1997 Apr;99(4):501-5. doi: 10.1007/s004390050396. Hum Genet. 1997. PMID: 9099841

4

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.

van Spaendonck-Zwarts KY, van der Kooi AJ, van den Berg MP, Ippel EF, Boven LG, Yee WC, van den Wijngaard A, Brusse E, Hoogendijk JE, Doevendans PA, de Visser M, Jongbloed JD, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Among authors: de visser m. Neth Heart J. 2012 May;20(5):219-28. doi: 10.1007/s12471-011-0233-y. Neth Heart J. 2012. PMID: 22215463 Free PMC article.

5

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Körver-Keularts IM, de Visser M, Bakker HD, Wanders RJ, Vansenne F, Scholte HR, Dorland L, Nicolaes GA, Spaapen LM, Smeets HJ, Hendrickx AT, van den Bosch BJ. Körver-Keularts IM, et al. Among authors: de visser m. JIMD Rep. 2015;22:39-45. doi: 10.1007/8904_2015_409. Epub 2015 Mar 3. JIMD Rep. 2015. PMID: 25732997 Free PMC article.

6

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA. Valentijn LJ, et al. Among authors: de visser m. Nat Genet. 1992 Dec;2(4):288-91. doi: 10.1038/ng1292-288. Nat Genet. 1992. PMID: 1303281

7

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.

Bienfait HM, Faber CG, Baas F, Gabreëls-Festen AA, Koelman JH, Hoogendijk JE, Verschuuren JJ, Wokke JH, de Visser M. Bienfait HM, et al. Among authors: de visser m. J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):534-7. doi: 10.1136/jnnp.2005.073437. J Neurol Neurosurg Psychiatry. 2006. PMID: 16543539 Free PMC article.

8

Myositis with endomysial cell invasion indicates inclusion body myositis even if other criteria are not fulfilled.

van de Vlekkert J, Hoogendijk JE, de Visser M. van de Vlekkert J, et al. Among authors: de visser m. Neuromuscul Disord. 2015 Jun;25(6):451-6. doi: 10.1016/j.nmd.2015.02.014. Epub 2015 Mar 6. Neuromuscul Disord. 2015. PMID: 25817837

9

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: de coo if, de visser m. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145

10

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Kulkens T, et al. Among authors: de visser m. Nat Genet. 1993 Sep;5(1):35-9. doi: 10.1038/ng0993-35. Nat Genet. 1993. PMID: 7693130

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