Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
Schlipf, NA, Schüle, R, Klimpe, S, Karle, KN, Synofzik, M, Schicks, J, Riess, O, Schöls, L, Bauer, P
Published in Clinical genetics (01.08.2011)
Published in Clinical genetics (01.08.2011)
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Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients
Müller vom Hagen, J., Karle, K. N., Schüle, R., Krägeloh-Mann, I., Schöls, L.
Published in European journal of neurology (01.07.2014)
Published in European journal of neurology (01.07.2014)
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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
BONIFERT, Tobias, KARLE, Kathrin N, WOLF, Julia, GONZALEZ, Michael A, SPEZIANI, Fiorella, SCHÜLE, Rebecca, ZÜCHNER, Stephan, SCHÖLS, Ludger, WISSINGER, Bernd, SYNOFZIK, Matthis, TONAGEL, Felix, BATRA, Marion, WILHELM, Christian, THEURER, Yvonne, SCHOENFELD, Caroline, KLUBA, Torsten, KAMENISCH, York, CARELLI, Valerio
Published in Brain (London, England : 1878) (01.08.2014)
Published in Brain (London, England : 1878) (01.08.2014)
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Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients: EXOME SEQUENCING
SCHLIPF, N. A, SCHÜLE, R, KLIMPE, S, KARLE, K. N, SYNOFZIK, M, SCHICKS, J, RIESS, O, SCHÖLS, L, BAUER, P
Published in Clinical genetics (2011)
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Published in Clinical genetics (2011)
Journal Article