Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na + channel …
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na + channel …
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
…, T Smol, J Ghoumid, D Miguel, C Heine… - Brain, 2020 - academic.oup.com
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein
complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and …
complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and …
Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Background Deciphering the monogenetic causes of neurodevelopmental disorders (NDD)
is an important milestone to offer personalized care. But the plausibility of reported candidate …
is an important milestone to offer personalized care. But the plausibility of reported candidate …
The Angelman Syndrome Online Registry–A multilingual approach to support global research
I Krey, C Heine, M Frömming, J Herrmann… - European Journal of …, 2021 - Elsevier
In collaboration with the German Angelman syndrome (AS) community, we developed a web‐based
AS Online Registry to congregate existing as well as future information and …
AS Online Registry to congregate existing as well as future information and …
[CITATION][C] Untersuchungen zur Bioaktivität von molekularen Isoformen des Resistins
CS Heine - 2010 - Verlag nicht ermittelbar
[CITATION][C] Stellenwert des retropatellaren Ersatzes bei der Oberflächenprothese des Kniegelenkes
CC Heine - 2009
[PDF][PDF] Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Since the first pathogenic SCN8A variant was discovered in an individual with epilepsy, 1 a
wide clinical spectrum of neurodevelopmental phenotypes has been reported. The spectrum …
wide clinical spectrum of neurodevelopmental phenotypes has been reported. The spectrum …
[CITATION][C] Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia (vol 143, pg 2929, 2020)
…, T Smol, J Ghoumid, D Miguel, C Heine… - …, 2021 - OXFORD UNIV PRESS GREAT …
[PDF][PDF] Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel …
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel …
King John in the “Vormärz”: Worrying Politics and Pathos
R Gillett - Multicultural Shakespeare: Translation, Appropriation …, 2019 - ceeol.com
This article picks up on a tendency of recent criticism to look to Shakespeare for insights into
contemporary politics, and extends it backwards to the period of German history known as …
contemporary politics, and extends it backwards to the period of German history known as …