Klinik für Neuropädiatrie und Muskelerkrankungen

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Publications

195

Citations

Authors

Location

Freiburg, Germany

Klinik für Neuropädiatrie und Muskelerkrankungen is a healthcare institution in Freiburg, Germany known for life sciences, molecular genetics, and genetics.

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Life SciencesGeneticsMolecular GeneticsNeurogeneticsMedicineHuman GeneticsMedical GeneticsGenetic DisordersEpilepsyMovement Disorder Genetics

Publications

195

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 413 citations

Life Sciences, Genetics, Neuroscience +12

High penetrance and pronounced variation in expressivity of <i>GCH1</i> mutations in five families with dopa‐responsive dystonia

Daniela Steinberger, YG Weber, Rudolf Korinthenberg et al. · Annals of Neurology · 1998 · 75 citations

Life Sciences, Genetics, Molecular Genetics +12

Dopa-responsive dystonia: Mutation analysis of <i>GCH1</i> and analysis of therapeutic doses of <scp>l</scp> -dopa

Daniela Steinberger, Rudolf Korinthenberg, Helge Topka et al. · Neurology · 2000 · 62 citations

Life Sciences, Genetics, Molecular Genetics +10

Identification of seven novel mutations in theGAN gene

Pascale Bomont, Christine Ioos, Rudolf Korinthenberg et al. · Human Mutation · 2003 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Renal tubular dysfunction following treatment with anti-epileptic drugs

Rudolf Korinthenberg, Lucia Wehrle, L. B. Zimmerhackl · European Journal of Pediatrics · 1994 · 27 citations

Medicine, Nephrology, Pharmacology +14

1–5 of 195

Authors

CG
C. Grolik
Klinik für Neuropädiatrie und Muskelerkrankungen, Germany
1 publications · 27 citations
1
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RW
R. Wedde
Klinik für Neuropädiatrie und Muskelerkrankungen, Germany
1 publications · 62 citations
1
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LW
Lucia Wehrle
Klinik für Neuropädiatrie und Muskelerkrankungen, Germany
2 publications · 27 citations
1
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