Sistermans E - Search Results

1

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

Hobson GM, Huang Z, Sperle K, Sistermans E, Rogan PK, Garbern JY, Kolodny E, Naidu S, Cambi F. Hobson GM, et al. Among authors: sistermans e. Hum Mutat. 2006 Jan;27(1):69-77. doi: 10.1002/humu.20276. Hum Mutat. 2006. PMID: 16287154

2

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Kevelam SH, et al. Among authors: sistermans ea. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125040 Free PMC article.

3

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Hobson GM, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG. Hobson GM, et al. Among authors: sistermans ea. Neurology. 2000 Oct 24;55(8):1089-96. doi: 10.1212/wnl.55.8.1089. Neurology. 2000. PMID: 11071483

4

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ. Wolf NI, et al. Brain. 2005 Apr;128(Pt 4):743-51. doi: 10.1093/brain/awh409. Epub 2005 Feb 2. Brain. 2005. PMID: 15689360

5

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM. Woodward KJ, et al. Among authors: sistermans ea. Am J Hum Genet. 2005 Dec;77(6):966-87. doi: 10.1086/498048. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380909 Free PMC article.

6

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

Garbern JY, Yool DA, Moore GJ, Wilds IB, Faulk MW, Klugmann M, Nave KA, Sistermans EA, van der Knaap MS, Bird TD, Shy ME, Kamholz JA, Griffiths IR. Garbern JY, et al. Among authors: sistermans ea. Brain. 2002 Mar;125(Pt 3):551-61. doi: 10.1093/brain/awf043. Brain. 2002. PMID: 11872612

7

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: sistermans e. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.

8

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

9

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Wolf NI, et al. Among authors: sistermans ea. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

10

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Paff T, Kooi IE, Moutaouakil Y, Riesebos E, Sistermans EA, Daniels HJMA, Weiss JMM, Niessen HHWM, Haarman EG, Pals G, Micha D. Paff T, et al. Among authors: sistermans ea. Hum Mutat. 2018 May;39(5):653-665. doi: 10.1002/humu.23403. Epub 2018 Mar 9. Hum Mutat. 2018. PMID: 29363216

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