U. Gruber‐Sedlmayr

发表

New mutations in the ATM gene and clinical data of 25 AT patients

T. Dörk, I. Demuth, K. Chrzanowska, 2011, neurogenetics.

Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein

K. Rostásy, A. Blaschek, C. Lechner, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

A. von Moers, B. Plecko, G. Bernert, 2019, Journal of neuromuscular diseases.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

U. Stephani, H. Lerche, J. Serratosa, 2013, Nature Genetics.

Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

A. Hofman, A. Uitterlinden, C. V. van Duijn, 2015, Annals of neurology.

Severe chorea with positive anti-basal ganglia antibodies after herpesencephalitis

G. Giovannoni, C. Mache, B. Plecko, 2006, Journal of Neurology Neurosurgery & Psychiatry.

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

J. Finsterer, S. Uhrig, E. Klopocki, 2012, BMC Medical Genetics.

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome

P. Broser, K. Rostásy, A. Blaschek, 2021, Neurology: Neuroimmunology & Neuroinflammation.

Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome

K. Rostásy, A. Blaschek, B. Anlar, 2017, Neurology.

Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease

K. Rostásy, A. Blaschek, F. Leypoldt, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

D. Horn, S. Uhrig, E. Klopocki, 2013, Clinical genetics.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

A. Hofman, A. Uitterlinden, P. May, 2016, PloS one.

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures

T. Meitinger, H. Wichmann, T. Strom, 2009, Neurology.

Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing

M. Speicher, A. Obenauf, A. Langmann, 2009, Journal of Medical Genetics.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

M. Jaatun, K. Katanyuwong, P. Kwan, 2018, Epilepsia open.

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

M. Jaatun, K. Katanyuwong, E. Pataraia, 2021, Orphanet Journal of Rare Diseases.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

C. Gieger, M. Waldenberger, I. Scheffer, 2014, Human molecular genetics.

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

W. Schmidt, B. Plecko, M. Lee-Kirsch, 2017, Pediatric Rheumatology.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

The burden of pneumococcal meningitis in Austrian children between 2001 and 2008

D. Klobassa, K. Pfurtscheller, A. Vécsei, 2014, European Journal of Pediatrics.

Tick‐borne encephalitis in Styrian children from 1981 to 2005: a retrospective study and a review of the literature

I. Mutz, W. Zenz, P. Fritsch, 2008, Acta paediatrica.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy

H. Lerche, F. Zimprich, P. Nürnberg, 2014, Epilepsia.

Tick-borne encephalitis: four cases in young vaccinated children

W. Zenz, M. Müller, U. Gruber‐Sedlmayr, 2012 .

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

S. Haas, P. Huppke, S. Kaler, 2012, American journal of human genetics.

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.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

P. May, R. Krause, R. Balling, 2018, European Journal of Human Genetics.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

M. Jaatun, K. Katanyuwong, E. Pataraia, 2018, Orphanet Journal of Rare Diseases.

Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.

M. Ensslen, K. Rostásy, I. Borggraefe, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures

A. Malafosse, A. Crespel, E. Pataraia, 2010, PloS one.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

G. Giovannoni, C. Mache, B. Plecko, 2005 .

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

P. Huppke, S. Kaler, J. Christodoulou, 2012, American journal of human genetics.

Differences and similarities in the evolution of morphologic brain abnormalities between paediatric and adult-onset multiple sclerosis

P. Linortner, S. Ropele, F. Fazekas, 2013, Multiple sclerosis.