T. Dorn

发表

Automatic striatal volumetry allows for identification of patients with chorea-acanthocytosis at single subject level

H. Huppertz, A. Danek, B. Weber, 2008, Journal of Neural Transmission.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

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

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia

R. Guerrini, D. Mei, T. Dorn, 2004, Neurogenetics.

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

R. Thomas, N. Rapps, T. Dorn, 2016, Molecular Syndromology.

Towards a Molecular Syndromology of the Epilepsies

T. Dorn, J. Lemke, 2016, Molecular Syndromology.

Investigation of GRIN2A in common epilepsy phenotypes

R. Krause, A. Palotie, U. Stephani, 2015, Epilepsy Research.

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Michael R. Johnson, Josemir W Sander, P. Matthews, 2010, American journal of human genetics.

The landscape of epilepsy-related GATOR1 variants

A. Biraben, F. Bartolomei, P. Striano, 2018, Genetics in Medicine.

Galanin pathogenic mutations in temporal lobe epilepsy.

S. Antonarakis, P. Ryvlin, A. Crespel, 2015, Human molecular genetics.

Galanin pathogenicmutations in temporal lobe epilepsy

Krista, Malika, S. Antonarakis, 2015 .

{Ag(isonicotinamide)2NO3}2 — a Stable Form of Silver Nitrate

K. Fromm, C. Janiak, T. Dorn, 2006 .

Mössbauer, nuclear inelastic scattering and density functional studies on the second metastable state of Na2[Fe(CN)5NO]·2H2O

C. Janiak, J. Wolny, T. Dorn, 2007, 1206.2264.

Hydrophilic interior between hydrophobic regions in inverse bilayer structures of cation–1,1′-binaphthalene-2,2′-diyl phosphate salts

C. Janiak, T. Dorn, Anne-Christine Chamayou, 2006 .

Hydrogen-bonding, π-stacking and Cl−-anion–π interactions of linear bipyridinium cations with phosphate, chloride and [CoCl4]2− anions

C. Janiak, T. Dorn, K. Abu-Shandi, 2005 .

Synthesis of Isotope Enriched (CN3H6)2[57Fe(CN)5NO] starting from57Fe

C. Janiak, T. Dorn, B. Wrackmeyer, 2001 .

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, L. Lagae, W. van Paesschen, 2019, Epilepsia.

Metastable isonitrosyl structure of the nitroprusside anion confirmed by nuclear inelastic scattering.

C. Janiak, V. Schünemann, T. Dorn, 2002, Journal of the American Chemical Society.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

J. Roach, P. May, D. Galas, 2014, Nature Genetics.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

Smoking reduces serum levels of lamotrigine

C. Reinsberger, T. Dorn, G. Krämer, 2008, Seizure.

Wernicke Encephalopathy – A Severe Neurological Complication in a Clinically Inactive Crohn’s Disease

A. Siegel, T. Dorn, P. Bauerfeind, 2003, European Neurology.

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Michael R. Johnson, Josemir W Sander, P. Matthews, 2010, Brain : a journal of neurology.

Delineating the GRIN1 phenotypic spectrum

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

The spectrum of WRN mutations in Werner syndrome patients

Markus Schuelke, Thomas Dorn, Johannes Ring, 2006, Human mutation.

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

J. Lupski, R. Barrantes, A. Ekici, 2009, neurogenetics.

Epilepsy and trisomy 19q—different seizure patterns in a brother and a sister

A. Siegel, A. Schinzel, T. Dorn, 2001, Epilepsy Research.

Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

D. Goldstein, T. Grunwald, L. Martinian, 2011, Epilepsia.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

A. Ramasamy, I. Scheffer, H. Hakonarson, 2013, Brain : a journal of neurology.

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))—Causal relationship or coincidence?

A. Zankl, T. Dorn, J. Lemke, 2009, Seizure.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations

R. Guerrini, T. Dorn, E. Parrini, 2009, Epilepsia.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

S. Sisodiya, B. Harding, W. Dobyns, 2004, Neurology.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.

J. Lupski, R. Barrantes, A. Ekici, 2009, neurogenetics.