Holinski-Feder E - Search Results

1

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.

Klopstock T, Chahrokh-Zadeh S, Holinski-Feder E, Meindl A, Gasser T, Pongratz D, Müller-Felber W. Klopstock T, et al. Acta Neuropathol. 1999 Feb;97(2):139-42. doi: 10.1007/s004010050966. Acta Neuropathol. 1999. PMID: 9928824

2

Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues.

Jedele KB, Wahl D, Chahrokh-Zadeh S, Wirtz A, Murken J, Holinski-Feder E. Jedele KB, et al. Clin Genet. 1998 Aug;54(2):148-51. doi: 10.1111/j.1399-0004.1998.tb03718.x. Clin Genet. 1998. PMID: 9761394

3

Large intergenerational variation in age of onset in two young patients with Huntington's disease presenting as dyskinesia.

Holinski-Feder E, Jedele KB, Hörtnagel K, Albert A, Meindl A, Trenkwalder C. Holinski-Feder E, et al. Pediatrics. 1997 Nov;100(5):896-8. doi: 10.1542/peds.100.5.896. Pediatrics. 1997. PMID: 9346994 No abstract available.

4

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmüller H, Klopstock T, Jaksch M. Horváth R, et al. J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):74-6. doi: 10.1136/jnnp.2005.067041. J Neurol Neurosurg Psychiatry. 2006. PMID: 16361598 Free PMC article.

5

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CI, Meindl A. Holinski-Feder E, et al. Pediatrics. 1998 Feb;101(2):276-84. doi: 10.1542/peds.101.2.276. Pediatrics. 1998. PMID: 9445504

6

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T. Horváth R, et al. Neuromuscul Disord. 2008 Jul;18(7):553-6. doi: 10.1016/j.nmd.2008.05.002. Epub 2008 Jun 30. Neuromuscul Disord. 2008. PMID: 18590963

7

FRAXE testing.

Holinski-Feder E, Chahrokh-Zadeh S, Jedele KB, Meindl A, Steinbach P, Wöhrle D. Holinski-Feder E, et al. Am J Hum Genet. 1996 Nov;59(5):1168-9. Am J Hum Genet. 1996. PMID: 8900249 Free PMC article. No abstract available.

8

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.

Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T; European Multiple System Atrophy Study Group. Kamm C, et al. Brain. 2005 Aug;128(Pt 8):1855-60. doi: 10.1093/brain/awh535. Epub 2005 Jun 9. Brain. 2005. PMID: 15947063

9

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Horváth R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmüller H, Klopstock T. Horváth R, et al. J Neurol. 2009 May;256(5):810-5. doi: 10.1007/s00415-009-5023-8. Epub 2009 Mar 1. J Neurol. 2009. PMID: 19252805

10

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Walter MC, et al. J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20. J Neurol. 2010. PMID: 20405137

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