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Page 1
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Hum Mutat. 2020 Sep;41(9):1514-1527. doi: 10.1002/humu.24064. Epub 2020 Jun 29.
Hum Mutat. 2020.
PMID: 32531858
Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.
Burbulla LF, Song P, Mazzulli JR, Zampese E, Wong YC, Jeon S, Santos DP, Blanz J, Obermaier CD, Strojny C, Savas JN, Kiskinis E, Zhuang X, Krüger R, Surmeier DJ, Krainc D.
Burbulla LF, et al. Among authors: obermaier cd.
Science. 2017 Sep 22;357(6357):1255-1261. doi: 10.1126/science.aam9080. Epub 2017 Sep 7.
Science. 2017.
PMID: 28882997
Free PMC article.
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X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.
Carstens PO, et al. Among authors: obermaier cd.
Neurol Genet. 2019 Apr 26;5(3):e327. doi: 10.1212/NXG.0000000000000327. eCollection 2019 Jun.
Neurol Genet. 2019.
PMID: 31192301
Free PMC article.
No abstract available.
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A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R.
Boussaad I, et al. Among authors: obermaier cd.
Sci Transl Med. 2020 Sep 9;12(560):eaau3960. doi: 10.1126/scitranslmed.aau3960.
Sci Transl Med. 2020.
PMID: 32908004
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM.
Smirnov V, et al. Among authors: obermaier cd.
Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410.
Int J Mol Sci. 2021.
PMID: 34203883
Free PMC article.
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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF, Heller C, Zengeler D, Obermaier CD, Biskup S, Weis J, Nikolin S, Claeys KG, Schöne U, Beijer D, Winter N, Achenbach P, Gess B, Schulz JB, Mulahasanovic L.
Dohrn MF, et al. Among authors: obermaier cd.
Neurol Res Pract. 2022 Feb 1;4(1):5. doi: 10.1186/s42466-022-00169-w.
Neurol Res Pract. 2022.
PMID: 35101151
Free PMC article.
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Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J.
Owczarek-Lipska M, et al. Among authors: obermaier cd.
Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3.
Mol Biol Rep. 2019.
PMID: 31270756
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