Schaper J - Search Results

1

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R. Voit T, et al. Among authors: schaper j. Neuromuscul Disord. 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. Neuromuscul Disord. 2001. PMID: 11166161

2

Acute cerebellitis with near-fatal cerebellar swelling and benign outcome under conservative treatment with high dose steroids.

Göhlich-Ratmann G, Wallot M, Baethmann M, Schaper J, Roggendorf M, Roll C, Aksu F, Voit T. Göhlich-Ratmann G, et al. Among authors: schaper j. Eur J Paediatr Neurol. 1998;2(3):157-62. doi: 10.1016/s1090-3798(98)80032-9. Eur J Paediatr Neurol. 1998. PMID: 10726838 Review.

3

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?

Göhlich-Ratmann G, Lackner A, Schaper J, Voit T, Gillessen-Kaesbach G. Göhlich-Ratmann G, et al. Among authors: schaper j. Am J Med Genet. 2000 Nov 27;95(3):241-6. Am J Med Genet. 2000. PMID: 11102931

4

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

Voit T, Parano E, Straub V, Schröder JM, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R. Voit T, et al. Among authors: schaper j. Neuromuscul Disord. 2002 Oct;12(7-8):623-30. doi: 10.1016/s0960-8966(02)00018-4. Neuromuscul Disord. 2002. PMID: 12207929

5

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.

Klinge L, Schaper J, Wieczorek D, Voit T. Klinge L, et al. Among authors: schaper j. Neuropediatrics. 2002 Dec;33(6):309-13. doi: 10.1055/s-2002-37086. Neuropediatrics. 2002. PMID: 12571786

6

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.

Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Görlinger K, Wallot M, Richards S, Voit T. Klinge L, et al. Among authors: schaper j. Neuromuscul Disord. 2005 Jan;15(1):24-31. doi: 10.1016/j.nmd.2004.10.009. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15639117 Clinical Trial.

7

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Among authors: schaper j. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364

8

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: schaper j. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.

9

Adamantiades-Behçet's disease and elevated intracranial pressure in a 12 year old Turkish girl.

Neudorf U, Wieland R, Schaper J. Neudorf U, et al. Among authors: schaper j. Adv Exp Med Biol. 2003;528:381-2. doi: 10.1007/0-306-48382-3_77. Adv Exp Med Biol. 2003. PMID: 12918728 No abstract available.

10

Biotinidase deficiency: a treatable leukoencephalopathy.

Grünewald S, Champion MP, Leonard JV, Schaper J, Morris AA. Grünewald S, et al. Among authors: schaper j. Neuropediatrics. 2004 Aug;35(4):211-6. doi: 10.1055/s-2004-821080. Neuropediatrics. 2004. PMID: 15328559

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