C. Courage

发表

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

S. Gallati, H. Lerche, M. Schubach, 2012, Epilepsia.

Defining the phenotypic spectrum of SLC6A1 mutations

G. Carvill, H. Mefford, P. Striano, 2018, Epilepsia.

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

S. Gallati, A. Schaller, L. Euro, 2017, American journal of medical genetics. Part A.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

Estimation of the impact on children’s health of environmental tobacco smoke in England and Wales

L. Rushton, C. Courage, E. Green, 2003, The journal of the Royal Society for the Promotion of Health.

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

S. Gallati, G. Houge, C. Rieubland, 2014, European journal of medical genetics.

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

Differential effects of staurosporine analogues on cell cycle, growth and viability in A549 cells.

A. Gescher, R. Snowden, C. Courage, 1996, British Journal of Cancer.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

Establishment of a murine leukaemia cell line resistant to the growth-inhibitory effect of bryostatin 1.

D. Crowther, A. Dickson, A. Gescher, 1994, British Journal of Cancer.

Prioritising veterinary medicines according to their potential indirect human exposure and toxicity profile.

Alistair B A Boxall, Philip Holmes, A. Boxall, 2006, Toxicology letters.

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

L. Scorrano, A. Schaller, H. Simon, 2018, Nature Communications.

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

B. Ceulemans, L. Valanne, A. Lehesjoki, 2020, European journal of medical genetics.

Progressive Myoclonus Epilepsies

P. Striano, R. Michelucci, S. Berkovic, 1999 .

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

I. Scheffer, A. Palotie, P. Striano, 2021, American journal of human genetics.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

Comparison of ability of protein kinase C inhibitors to arrest cell growth and to alter cellular protein kinase C localisation.

A. Gescher, C. Courage, J. Budworth, 1995, British Journal of Cancer.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

J. Lemke, J. Neidhardt, L. Jakubowski, 2019, American journal of medical genetics. Part A.

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, Brain communications.

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, medRxiv.

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

M. Schubach, K. Schilbach, Katja Sonntag, 2018, Journal of Translational Medicine.

Reducing domestic exposure to environmental tobacco smoke: a review of attitudes and behaviours

L. Rushton, C. Courage, E. Green, 2003, The journal of the Royal Society for the Promotion of Health.

Benzene in the environment: an assessment of the potential risks to the health of the population

R Duarte-Davidson, L Rushton, R. Duarte-Davidson, 2001, Occupational and environmental medicine.

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

G. Borsani, L. Mazzola, S. Berkovic, 2020, Annals of neurology.

Decrease in susceptibility toward induction of apoptosis and alteration in G1 checkpoint function as determinants of resistance of human lung cancer cells against the antisignaling drug UCN-01 (7-Hydroxystaurosporine).

M. Shimizu, S. Akinaga, T. Tamaoki, 1999, Cancer research.

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy

S. Gallati, J. Lemke, C. Rieubland, 2012, Epilepsia.

M. Schubach, K. Schilbach, Katja Sonntag, 2018, Journal of Translational Medicine.

The Angelman Syndrome Online Registry - A multilingual approach to support global research.

R. Møller, J. Lemke, S. Weckhuysen, 2021, European journal of medical genetics.

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

L. Scorrano, A. Schaller, H. Simon, 2018, Nature Communications.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

B. V. van Bon, L. Vissers, R. Pfundt, 2024, American journal of human genetics.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

H. J. Schelhaas, S. Naidu, E. Gardella, 2024, Epilepsia.