Huppke P - Search Results

1

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ. Archer HL, et al. Among authors: huppke p. J Med Genet. 2006 May;43(5):451-6. doi: 10.1136/jmg.2005.033464. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183801 Free PMC article.

2

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.

3

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F. Huppke P, et al. Hum Mol Genet. 2000 May 22;9(9):1369-75. doi: 10.1093/hmg/9.9.1369. Hum Mol Genet. 2000. PMID: 10814718

4

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

Laccone F, Huppke P, Hanefeld F, Meins M. Laccone F, et al. Among authors: huppke p. Hum Mutat. 2001 Mar;17(3):183-90. doi: 10.1002/humu.3. Hum Mutat. 2001. PMID: 11241840

5

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W. Trappe R, et al. Among authors: huppke p. Am J Hum Genet. 2001 May;68(5):1093-101. doi: 10.1086/320109. Epub 2001 Apr 17. Am J Hum Genet. 2001. PMID: 11309679 Free PMC article.

6

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.

Huppke P, Held M, Hanefeld F, Engel W, Laccone F. Huppke P, et al. Neuropediatrics. 2002 Apr;33(2):63-8. doi: 10.1055/s-2002-32365. Neuropediatrics. 2002. PMID: 12075485

7

Altered methylation pattern of the G6 PD promoter in Rett syndrome.

Huppke P, Bohlander S, Krämer N, Laccone F, Hanefeld F. Huppke P, et al. Neuropediatrics. 2002 Apr;33(2):105-8. doi: 10.1055/s-2002-32373. Neuropediatrics. 2002. PMID: 12075494

8

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R. Laccone F, et al. Among authors: huppke p. J Med Genet. 2002 Aug;39(8):586-8. doi: 10.1136/jmg.39.8.586. J Med Genet. 2002. PMID: 12161600 Free PMC article. No abstract available.

9

Indication for genetic testing: a checklist for Rett syndrome.

Huppke P, Köhler K, Laccone F, Hanefeld F. Huppke P, et al. J Pediatr. 2003 Mar;142(3):332-5. doi: 10.1067/mpd.2003.96. J Pediatr. 2003. PMID: 12640384

10

The spectrum of phenotypes in females with Rett Syndrome.

Huppke P, Held M, Laccone F, Hanefeld F. Huppke P, et al. Brain Dev. 2003 Aug;25(5):346-51. doi: 10.1016/s0387-7604(03)00018-4. Brain Dev. 2003. PMID: 12850514

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