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33 results

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Page 1
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Among authors: hartlieb t. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.
Boßelmann CM, Leu C, Brünger T, Hoffmann L, Baldassari S, Chipaux M, Coras R, Kobow K, Hamer H, Delev D, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Becker K, Ferguson L, Busch RM, Baulac S, Nürnberg P, Najm I, Blümcke I, Lal D. Boßelmann CM, et al. Among authors: hartlieb t. Nat Commun. 2024 Nov 30;15(1):10429. doi: 10.1038/s41467-024-54911-w. Nat Commun. 2024. PMID: 39616148 Free PMC article.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D. López-Rivera JA, et al. Among authors: hartlieb t. Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. Brain. 2023. PMID: 36226386 Free PMC article.
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
Sanders MW, Van der Wolf I, Jansen FE, Aronica E, Helmstaedter C, Racz A, Surges R, Grote A, Becker AJ, Rheims S, Catenoix H, Duncan JS, De Tisi J, Jacques TS, Cross JH, Kalviainen R, Rauramaa T, Chassoux F, Devaux BC, Di Gennaro G, Esposito V, Bodi I, Honavar M, Bien CG, Cloppenborg T, Coras R, Hamer HM, Marusic P, Kalina A, Pieper T, Kudernatsch M, Hartlieb TS, Von Oertzen TJ, Aichholzer M, Dorfmuller G, Chipaux M, Noachtar S, Kaufmann E, Schulze-Bonhage A, Scheiwe CF, Özkara C, Grunwald T, Koenig K, Guerrini R, Barba C, Buccoliero AM, Giordano F, Rosenow F, Menzler K, Garbelli R, Deleo F, Krsek P, Straka B, Arzimanoglou AA, Toulouse J, Van Paesschen W, Theys T, Pimentel J, Loução De Amorim IM, Specchio N, De Palma L, Feucht M, Scholl T, Roessler K, Toledano Delgado R, Gil-Nagel A, Raicevic S, Ristic AJ, Schijns O, Beckervordersandforth J, San Antonio-Arce V, Rumia J, Blumcke I, Braun KP; as the European Epilepsy Brain Bank Consortium (EEBB). Sanders MW, et al. Among authors: hartlieb ts. Neurology. 2024 Feb 27;102(4):e208007. doi: 10.1212/WNL.0000000000208007. Epub 2024 Jan 30. Neurology. 2024. PMID: 38290094 Free PMC article.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Among authors: hartlieb t. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I. Honke J, et al. Among authors: hartlieb t. Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x. Acta Neuropathol Commun. 2023. PMID: 37946310 Free PMC article.
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A. Aledo-Serrano Á, et al. Among authors: hartlieb t. Neurotherapeutics. 2023 Sep;20(5):1294-1304. doi: 10.1007/s13311-023-01395-z. Epub 2023 Jun 6. Neurotherapeutics. 2023. PMID: 37278968 Free PMC article.
Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter.
Cecchini E, Geffers S, Coras R, Schultheis D, Holtzhausen C, Karandasheva K, Herrmann H, Paulsen F, Stadelmann C, Kobow K, Hartlieb T, Bien CG, Lal D, Blumcke I, Hoffmann L. Cecchini E, et al. Among authors: hartlieb t. Acta Neuropathol. 2025 Mar 5;149(1):23. doi: 10.1007/s00401-025-02858-7. Acta Neuropathol. 2025. PMID: 40042641 Free PMC article.
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Proepper CR, Schuetz SM, Schwarz LM, Au KV, Bast T, Beaud N, Borggraefe I, Bosch F, Budde J, Busse M, Chung J, Debus O, Diepold K, Fries T, Gersdorff GV, Haeussler M, Hahn A, Hartlieb T, Heiming R, Herkenrath P, Kluger G, Kreth JH, Kurlemann G, Moeller P, Morris-Rosendahl DJ, Panzer A, Philippi H, Ruegner S, Toepfer C, Vieker S, Wiemer-Kruel A, Winter A, Schuierer G, Hehr U, Geis T. Proepper CR, et al. Among authors: hartlieb t. Neuropediatrics. 2024 Dec;55(6):410-419. doi: 10.1055/s-0044-1789014. Epub 2024 Aug 30. Neuropediatrics. 2024. PMID: 39214127
33 results