Author

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

Makowski, Christine C.

Author Metrics

Top Publications

Top Publications Authored or Co-Authored by "Makowski, Christine C."

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
Genetics in Medicine, Volume 21, No. 11, Year 2019, Citations 36
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults
JAMA Neurology, Volume 75, No. 1, Year 2018, Citations 25
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 10
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Nutrients, Volume 14, No. 17, Article 3605, Year 2022, Citations 9

Institutional Spectrum

Most Recent Affiliations

Institution	Country	Start Year	End Year	Affiliated Years
Klinikum der Universität München	Germany	2023	2023	1
Ludwig-Maximilians-Universität München	Germany	2023	2023	1
Technische Universität München	Germany	2011	2022	12
Klinikum Schwabing	Germany	2013	2022	10
Schön Klinik München Schwabing	Germany	2022	2022	1
TUM Fakultät für Medizin	Germany	2021	2021	1
Klinik und Poliklinik für Kinder- und Jugendmedizin, München	Germany	2019	2019	1
Klinikum Rechts der Isar	Germany	2019	2019	1
Königin Elisabeth Herzberge	Germany	2009	2009	1

Disclaimer

All information and calculations provided are based on our current indexed publications and may change as more data is collected.

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The African Research Nexus is a visionary initiative that seeks to increase the visibility of African Researchers and Institutions. We are a dynamic hub designed to transform the African research landscape and amplify the voices of our continent’s brightest minds.

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