Epplen JT - Search Results

1

Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.

Vorgerd M, Gencik M, Mortier J, Epplen JT, Malin JP, Mortier W. Vorgerd M, et al. Among authors: epplen jt. Muscle Nerve. 2001 Mar;24(3):421-4. doi: 10.1002/1097-4598(200103)24:3<421::aid-mus1016>3.0.co;2-r. Muscle Nerve. 2001. PMID: 11353430

2

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

Arning L, Jagiello P, Schara U, Vorgerd M, Dahmen N, Gencikova A, Mortier W, Epplen JT, Gencik M. Arning L, et al. Among authors: epplen jt. J Neurol. 2004 Jan;251(1):72-8. doi: 10.1007/s00415-004-0274-x. J Neurol. 2004. PMID: 14999492

3

Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.

Schara U, Gencik M, Mortier J, Langen M, Gencikova A, Epplen JT, Mortier W. Schara U, et al. Among authors: epplen jt. Eur J Pediatr. 2001 Jul;160(7):452-3. doi: 10.1007/s004310100744. Eur J Pediatr. 2001. PMID: 11475588

4

[Diagnosis of neuromuscular diseases: progress with molecular genetic techniques].

Gencik M, Epplen JT, Mortier W. Gencik M, et al. Among authors: epplen jt. Dtsch Med Wochenschr. 1999 Jan 29;124(4):85-7. doi: 10.1055/s-2007-1024247. Dtsch Med Wochenschr. 1999. PMID: 10071605 Review. German. No abstract available.

5

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.

Gencik M, Gencik A, Mortier W, Epplen JT. Gencik M, et al. Among authors: epplen jt. Hum Mutat. 2000 Jan;15(1):122. doi: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10612851 No abstract available.

6

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo.

Vorgerd M, Schöls L, Hardt C, Ristow M, Epplen JT, Zange J. Vorgerd M, et al. Among authors: epplen jt. Neuromuscul Disord. 2000 Aug;10(6):430-5. doi: 10.1016/s0960-8966(00)00108-5. Neuromuscul Disord. 2000. PMID: 10899450 Clinical Trial.

7

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W. Hoffjan S, et al. Among authors: epplen jt. Neuromuscul Disord. 2006 Nov;16(11):749-53. doi: 10.1016/j.nmd.2006.07.020. Epub 2006 Sep 26. Neuromuscul Disord. 2006. PMID: 17005396

8

On the genetic contribution to selected multifactorial diseases with autoimmune characteristics.

Miterski B, Epplen JT, Gencik M. Miterski B, et al. Among authors: epplen jt. Cell Mol Biol (Noisy-le-grand). 2002 May;48(3):331-41. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 12030439 Review.

9

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.

Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. Jagiello P, et al. Among authors: epplen jt. Hum Mutat. 2003 Jun;21(6):630-5. doi: 10.1002/humu.10220. Hum Mutat. 2003. PMID: 12754710

10

A rare form of narcolepsy (HLA-DR2-) shows possible association with (functionally relevant) alpha-interferon gene polymorphisms.

Wieczorek S, Dahmen N, Kasten M, Epplen JT, Gencik M. Wieczorek S, et al. Among authors: epplen jt. Psychiatr Genet. 2004 Mar;14(1):47-51. doi: 10.1097/00041444-200403000-00008. Psychiatr Genet. 2004. PMID: 15091316

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