Susanne Morales-Gonzalez

Author

Charité - Universitätsmedizin Berlin ORCID

Also Known As

Morales-Gonzales, Susanne, S. Morales‐Gonzalez, Susanne Morales Gonzalez, Susanne Morales-Gonzales, Susanne Morales-Gonzalez

Publications

663

Citations

H-Index

Concepts

All Affiliations

Charité - Universitätsmedizin Berlin Freie Universität Berlin Humboldt-Universität zu Berlin Inserm Délégation Paris 5

About

Susanne Morales-Gonzalez is an author at Charité - Universitätsmedizin Berlin specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	253
2	Health Sciences	1	1	76
3	Applied Physiology	1	1	76
4	Cellular Physiology	1	1	76
5	Exercise Physiology	1	1	76

Susanne Morales-Gonzalez

Publications

649

Citations

H-Index

Page 1

	Year	Citations
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy D T Burns, Sandra Donkervoort, Juliane Müller, The American Journal of Human Genetics	2018	89
Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle Étienne Mouisel, Karima Relizani, Laurence Mille-Hamard, American Journal of Physiology-Regulatory, Integrative and Comparative Physiology Muscle FunctionMuscle MetabolismCellular PhysiologyKinesiologySkeletal Muscle	2014	76
De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Journal of Medical Genetics	2018	76
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, The American Journal of Human Genetics Spinal Cord InjuryDevelopmental BiologyBone Morphogenic ProteinGenetic DisorderGenetics	2016	72
Blockade of ActRIIB Signaling Triggers Muscle Fatigability and Metabolic Myopathy Karima Relizani, Étienne Mouisel, Benoı̂t Giannesini, Molecular Therapy	2014	70
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness Ellen Knierim, Esther Gill, Franziska Seifert, Human Genetics Congenital MyopathyMendelian DisorderGenetic DisorderMedicineGenetics	2017	58
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis Mirjana Gušić, Gudrun Schottmann, René G. Feichtinger, The American Journal of Human Genetics Allelic VariantMendelian DisorderGenetic DisorderAlopecia TotalisGenetics	2019	47
Recessive truncating <i>IGHMBP2</i> mutations presenting as axonal sensorimotor neuropathy Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara, Neurology	2015	35
Recessive <i>DEAF1</i> mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy Anna Rajab, Markus Schuelke, Esther Gill, Journal of Medical Genetics	2015	30
Characterization of a Dmd EGFP reporter mouse as a tool to investigate dystrophin expression Mina Petkova, Susanne Morales-Gonzalez, Karima Relizani, Skeletal Muscle	2016	25

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