Concepedia

Author

Corina Heller

CeGaT (Germany)

Also Known As

C. G. Heller, Corina Heller

12

Publications

274

Citations

8

H-Index

12

Concepts

All Affiliations

CeGaT (Germany)Praxis für Humangenetik TübingenLudwig-Maximilians-Universität MünchenInstituto de Salud Carlos IIIKU Leuven
CH

About

Corina Heller is an author at CeGaT (Germany) specializing in medicine, neurogenetics, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

90

2

Pathology

2

2

90

3

Molecular Genetics

1

1

13

4

Neurology

1

1

77

5

Neuroscience

1

1

77

Corina Heller

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7

Publications

263

Citations

7

H-Index

YearCitations

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic,

Journal of Neurochemistry

2017

77

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke,

Brain

2020

59

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the <i><scp>ALMS</scp>1</i> gene

Fadi Nasser, Nicole Weisschuh, Pietro Maffei,

Acta Ophthalmologica

2017

39

Identification of Key Amino Acid Residues That Determine the Ability of High Risk HPV16-E7 to Dysregulate Major Histocompatibility Complex Class I Expression

Corina Heller, Antje Mueller-Schickert, Elke Rufer,

Journal of Biological Chemistry

2011

35

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy

Anne Schänzer, Alexander Pepler, Corina Heller,

Neuropediatrics

2017

29

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family

Elena Ikenberg, Peter Reilich, Angela Abicht,

Neuromuscular Disorders

2019

13

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Daniel G. Calame, Cristina Moreno Vadillo, Seth Berger,

Brain

2023

11

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