49 Einträge gefunden

1. Incontinetia pigmenti-related myopathy or unsolved "double trouble"?

   1. Huttner, H B
   2. Richter, G
   3. Jünemann, A
   4. Kress, W
   5. Weis, J
   6. Schröder, J M
   7. Gal, Andreas

   2010 - Forschungsinformationssystem des UKE
2. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

   1. Guettsches, Anne-Katrin
   2. Kuechler, Alma
   3. Gal, Andreas
   4. Schmitz, Werner
   5. Tegenthoff, Martin
   6. Vorgerd, Matthias

   2010 - Forschungsinformationssystem des UKE
3. Clinical, radiological and genetic aspects of leukodystrophies.

   1. László, A
   2. Elpeleg, On
   3. Horváth, K
   4. Jakobs, C
   5. Kóbor, J
   6. Gal, Andreas
   7. Barsi, P

   2010 - Forschungsinformationssystem des UKE
4. RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.

   1. Chrispell, Jared D
   2. Feathers, Kecia L
   3. Kane, Maureen A
   4. Kim, Chul Y
   5. Brooks, Matthew
   6. Khanna, Ritu
   7. Kurth, Ingo

   2009 - Forschungsinformationssystem des UKE
5. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

   1. Azam, Maleeha
   2. Khan, Muhammad Imran
   3. Gal, Andreas
   4. Hussain, Alamdar
   5. Shah, Syed Tahir Abbas
   6. Khan, Muhammad Shakil
   7. Sadeque, Ahmed

   2009 - Forschungsinformationssystem des UKE - frei zugänglich
6. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

   1. Renner, Agnes B
   2. Fiebig, Britta S
   3. Weber, Bernhard H F
   4. Wissinger, Bernd
   5. Andreasson, Sten
   6. Gal, Andreas
   7. Cropp, Elke

   2009 - Forschungsinformationssystem des UKE
7. Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

   1. Frio, Thomas Rio
   2. Panek, Sylwia
   3. Iseli, Christian
   4. Gioia, Di
   5. Alessandro, Silvio
   6. Gal, Andreas
   7. Gal, Andreas

   2009 - Forschungsinformationssystem des UKE - frei zugänglich
8. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

   1. Whybra, Catharina
   2. Miebach, Elke
   3. Mengel, Eugen
   4. Gal, Andreas
   5. Baron, Karin
   6. Beck, Michael
   7. Kampmann, Christoph

   2009 - Forschungsinformationssystem des UKE
9. Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

   1. Schob, Claudia
   2. Orth, Ulrike
   3. Gal, Andreas
   4. Kindler, Stefan
   5. Chakarova, Christina F
   6. Bhattacharya, Shomi S
   7. Rüther, Klaus

   2009 - Forschungsinformationssystem des UKE
10. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

    1. Kurth, Ingo
    2. Klopocki, Eva
    3. Stricker, Sigmar
    4. van Oosterwijk, Jolieke
    5. Vanek, Sebastian
    6. Altmann, Jens
    7. Santos, Heliosa G

    2009 - Forschungsinformationssystem des UKE
11. [Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]

    1. Müller, M
    2. Kusserow, C
    3. Orth, Ulrike
    4. Klär-Dissars, U
    5. Laqua, H
    6. Gal, Andreas

    2008 - Forschungsinformationssystem des UKE
12. Does proximal myotonic myopathy show anticipation?

    1. Kruse, Bernd
    2. Wöhrle, Doris
    3. Steinbach, Peter
    4. Gal, Andreas

    2008 - Forschungsinformationssystem des UKE
13. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

    1. Meyer, Ann
    2. Kossow, Kai
    3. Gal, Andreas
    4. Steglich, Cordula
    5. Mühlhausen, Chris
    6. Ullrich, Kurt
    7. Braulke, Thomas

    2008 - Forschungsinformationssystem des UKE
14. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.

    1. Rohard, Imke
    2. Schaefer, E
    3. Kampmann, C
    4. Beck, M
    5. Gal, Andreas

    2008 - Forschungsinformationssystem des UKE
15. Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

    1. Kampmann, Christoph
    2. Linhart, Ales
    3. Baehner, Frank
    4. Palecek, Tomas
    5. Wiethoff, Christiane M
    6. Miebach, Elke
    7. Whybra, Catharina

    2008 - Forschungsinformationssystem des UKE
16. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

    1. Szabo, Viktoria
    2. Kreienkamp, Hans-Jürgen
    3. Rosenberg, Thomas
    4. Gal, Andreas

    2007 - Forschungsinformationssystem des UKE
17. L1CAM mutation in a boy with hydrocephalus and duplex kidneys.

    1. Liebau, Max Christoph
    2. Gal, Andreas
    3. Superti-Furga, Andrea
    4. Omran, Heymut
    5. Pohl, Martin

    2007 - Forschungsinformationssystem des UKE
18. Plexin B3 is genetically associated with verbal performance and white matter volume in human brain.

    1. Rujescu, D
    2. Meisenzahl, E M
    3. Krejcova, S
    4. Giegling, I
    5. Zetzsche, T
    6. Reiser, M
    7. Born, C M

    2007 - Forschungsinformationssystem des UKE
19. Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

    1. Kurth, Ingo
    2. Thompson, Debra A
    3. Rüther, Klaus
    4. Feathers, Kecia L
    5. Chrispell, Jared D
    6. Schroth, Jana
    7. McHenry, Christina L

    2007 - Forschungsinformationssystem des UKE
20. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

    1. Schuster, Andreas
    2. Janecke, Andreas R
    3. Wilke, Robert
    4. Schmid, Eduard
    5. Thompson, Debra A
    6. Utermann, Gerd
    7. Wissinger, Bernd

    2007 - Forschungsinformationssystem des UKE - frei zugänglich