Gal A - Search Results

1

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

Hartwig C, Gal A, Santer R, Ullrich K, Finckh U, Kreienkamp HJ. Hartwig C, et al. Among authors: gal a. FEBS Lett. 2006 Jun 12;580(14):3489-92. doi: 10.1016/j.febslet.2006.05.026. Epub 2006 May 15. FEBS Lett. 2006. PMID: 16716305 Free article.

2

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.

Michelson P, Hartwig C, Schachner M, Gal A, Veske A, Finckh U. Michelson P, et al. Among authors: gal a. Hum Mutat. 2002 Dec;20(6):481-2. doi: 10.1002/humu.9096. Hum Mutat. 2002. PMID: 12442287

3

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

Finckh U, Schröder J, Ressler B, Veske A, Gal A. Finckh U, et al. Among authors: gal a. Am J Med Genet. 2000 May 1;92(1):40-6. doi: 10.1002/(sici)1096-8628(20000501)92:1<40::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 2000. PMID: 10797421

4

Prenatal molecular diagnosis of L1-spectrum disorders.

Finckh U, Gal A. Finckh U, et al. Among authors: gal a. Prenat Diagn. 2000 Sep;20(9):744-5. Prenat Diagn. 2000. PMID: 11015704 Review. No abstract available.

5

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

Szabo V, Kreienkamp HJ, Rosenberg T, Gal A. Szabo V, et al. Among authors: gal a. Hum Mutat. 2007 Jul;28(7):741-2. doi: 10.1002/humu.9499. Hum Mutat. 2007. PMID: 17584859

6

Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease.

Günther C, von Hadeln K, Müller-Thomsen T, Alberici A, Binetti G, Hock C, Nitsch RM, Stoppe G, Reiss J, Gal A, Finckh U. Günther C, et al. Among authors: gal a. Neurosci Lett. 2004 Oct 21;369(3):219-23. doi: 10.1016/j.neulet.2004.07.070. Neurosci Lett. 2004. PMID: 15464268

7

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T. Gal A, et al. Am J Hum Genet. 2011 Mar 11;88(3):382-90. doi: 10.1016/j.ajhg.2011.02.006. Am J Hum Genet. 2011. PMID: 21397065 Free PMC article.

8

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Muschol N, et al. Among authors: gal a. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037. Hum Mutat. 2004. PMID: 15146460

9

No association between DCP1 genotype and late-onset Alzheimer disease.

Buss S, Müller-Thomsen T, Hock C, Alberici A, Binetti G, Nitsch RM, Gal A, Finckh U. Buss S, et al. Among authors: gal a. Am J Med Genet. 2002 May 8;114(4):440-5. doi: 10.1002/ajmg.10306. Am J Med Genet. 2002. PMID: 11992568

10

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T. Muschol N, et al. Among authors: gal a. Am J Med Genet A. 2011 Jul;155A(7):1634-9. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671382

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