Stephani U - Search Results

1

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K. Körner C, et al. Among authors: stephani u. EMBO J. 1999 Dec 1;18(23):6816-22. doi: 10.1093/emboj/18.23.6816. EMBO J. 1999. PMID: 10581255 Free PMC article.

2

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.

Stibler H, Stephani U, Kutsch U. Stibler H, et al. Among authors: stephani u. Neuropediatrics. 1995 Oct;26(5):235-7. doi: 10.1055/s-2007-979762. Neuropediatrics. 1995. PMID: 8552211

3

Apolipoprotein J deficiency in types I and IV carbohydrate-deficient glycoprotein syndrome (glycanosis CDG).

Heyne K, Henry H, Messerli B, Bachmann C, Stephani U, Tissot JD, Weidinger S. Heyne K, et al. Among authors: stephani u. Eur J Pediatr. 1997 Mar;156(3):247-8. Eur J Pediatr. 1997. PMID: 9083771 No abstract available.

4

Hypothyroidism phenocopy in glycanosis CDG (carbohydrate-deficient glycoprotein syndrome).

Heyne K, Marg W, Walther F, Stephani U, Hermanussen M, Weidinger S. Heyne K, et al. Among authors: stephani u. Eur J Pediatr. 1994 Nov;153(11):866. doi: 10.1007/BF01972905. Eur J Pediatr. 1994. PMID: 7843210 No abstract available.

5

Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.

Meins M, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F. Meins M, et al. Among authors: stephani u. Neuropediatrics. 2002 Aug;33(4):194-8. doi: 10.1055/s-2002-34495. Neuropediatrics. 2002. PMID: 12368989

6

Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.

Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M. Hartmann H, et al. Among authors: stephani u. Neuropediatrics. 2007 Jun;38(3):143-7. doi: 10.1055/s-2007-985902. Neuropediatrics. 2007. PMID: 17985264

7

Cranial computed tomography of 64 children in continuous complete remission of leukemia I: relations to therapy in modalities.

Habermalz E, Habermalz HJ, Stephani U, Henze G, Riehm H, Hanefeld F. Habermalz E, et al. Among authors: stephani u. Neuropediatrics. 1983 Aug;14(3):144-8. doi: 10.1055/s-2008-1059567. Neuropediatrics. 1983. PMID: 6578422

8

Cranial computed tomography of 64 children in continuous complete remission of leukemia II: relations to patient data and neurological complications.

Stephani U, Harten G, Langermann HJ, Riehm H, Hanefeld F, Habermalz E, Habermalz HJ. Stephani U, et al. Neuropediatrics. 1983 Aug;14(3):149-54. doi: 10.1055/s-2008-1059568. Neuropediatrics. 1983. PMID: 6194468

9

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Lemke JR, et al. Among authors: stephani u. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819

10

PRRT2 mutations are the major cause of benign familial infantile seizures.

Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Schubert J, et al. Among authors: stephani u. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22623405

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

279 results

Search Page