Grehl H - Search Results

1

PMP22 Thr118Met is not a clinically relevant CMT1 marker.

Young P, Stögbauer F, Eller B, de Jonghe P, Löfgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbäumer G, Van Broeckhoven C, Ringelstein EB, Funke H. Young P, et al. Among authors: grehl h. J Neurol. 2000 Sep;247(9):696-700. doi: 10.1007/s004150070113. J Neurol. 2000. PMID: 11081809

2

Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations.

Liehr T, Grehl H, Rautenstrauss B. Liehr T, et al. Among authors: grehl h. Acta Neuropathol. 1997 Sep;94(3):266-71. doi: 10.1007/s004010050702. Acta Neuropathol. 1997. PMID: 9292696

3

Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1.

Liehr T, Grehl H, Rautenstrauss B. Liehr T, et al. Among authors: grehl h. Acta Neuropathol. 1997 Nov;94(5):514-6. doi: 10.1007/s004010050742. Acta Neuropathol. 1997. PMID: 9386787 No abstract available.

4

Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice--a comparative study.

Rautenstrauss B, Zechner U, Hameister H, Grehl H, Liehr T. Rautenstrauss B, et al. Among authors: grehl h. J Peripher Nerv Syst. 1998;3(2):117-24. J Peripher Nerv Syst. 1998. PMID: 10959245

5

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Timmerman V, et al. Among authors: grehl h. J Med Genet. 1997 Jan;34(1):43-9. doi: 10.1136/jmg.34.1.43. J Med Genet. 1997. PMID: 9032649 Free PMC article.

6

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis.

Fuchs C, Liehr T, Ozbey S, Ekici A, Grehl H, Rautenstrauss B. Fuchs C, et al. Among authors: grehl h. Neurogenetics. 1998 Dec;2(1):43-6. doi: 10.1007/s100480050050. Neurogenetics. 1998. PMID: 9933299

7

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.

Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C. Rautenstrauss B, et al. Among authors: grehl h. Hum Mol Genet. 1994 Sep;3(9):1701-2. doi: 10.1093/hmg/3.9.1701. Hum Mol Genet. 1994. PMID: 7530550 No abstract available.

8

Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development.

Baechner D, Liehr T, Hameister H, Altenberger H, Grehl H, Suter U, Rautenstrauss B. Baechner D, et al. Among authors: grehl h. J Neurosci Res. 1995 Dec 15;42(6):733-41. doi: 10.1002/jnr.490420602. J Neurosci Res. 1995. PMID: 8847735

9

Clinical and morphological phenotype of HMSN 1A mosaicism.

Grehl H, Rautenstrauss B, Liehr T, Bickel A, Ekici A, Bathke K, Neundörfer B. Grehl H, et al. Neuromuscul Disord. 1997 Jan;7(1):27-31. doi: 10.1016/s0960-8966(96)00396-3. Neuromuscul Disord. 1997. PMID: 9132137

10

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.

Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD. Liehr T, et al. Among authors: grehl h. Hum Genet. 1996 Jul;98(1):22-8. doi: 10.1007/s004390050154. Hum Genet. 1996. PMID: 8682501

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