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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: thomas rh. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
The ENIGMA-Epilepsy working group: Mapping disease from large data sets.
Sisodiya SM, Whelan CD, Hatton SN, Huynh K, Altmann A, Ryten M, Vezzani A, Caligiuri ME, Labate A, Gambardella A, Ives-Deliperi V, Meletti S, Munsell BC, Bonilha L, Tondelli M, Rebsamen M, Rummel C, Vaudano AE, Wiest R, Balachandra AR, Bargalló N, Bartolini E, Bernasconi A, Bernasconi N, Bernhardt B, Caldairou B, Carr SJA, Cavalleri GL, Cendes F, Concha L, Desmond PM, Domin M, Duncan JS, Focke NK, Guerrini R, Hamandi K, Jackson GD, Jahanshad N, Kälviäinen R, Keller SS, Kochunov P, Kowalczyk MA, Kreilkamp BAK, Kwan P, Lariviere S, Lenge M, Lopez SM, Martin P, Mascalchi M, Moreira JCV, Morita-Sherman ME, Pardoe HR, Pariente JC, Raviteja K, Rocha CS, Rodríguez-Cruces R, Seeck M, Semmelroch MKHG, Sinclair B, Soltanian-Zadeh H, Stein DJ, Striano P, Taylor PN, Thomas RH, Thomopoulos SI, Velakoulis D, Vivash L, Weber B, Yasuda CL, Zhang J, Thompson PM, McDonald CR; ENIGMA Consortium Epilepsy Working Group. Sisodiya SM, et al. Among authors: thomas rh. Hum Brain Mapp. 2020 May 29;43(1):113-28. doi: 10.1002/hbm.25037. Online ahead of print. Hum Brain Mapp. 2020. PMID: 32468614 Free PMC article. Review.
White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study.
Hatton SN, Huynh KH, Bonilha L, Abela E, Alhusaini S, Altmann A, Alvim MKM, Balachandra AR, Bartolini E, Bender B, Bernasconi N, Bernasconi A, Bernhardt B, Bargallo N, Caldairou B, Caligiuri ME, Carr SJA, Cavalleri GL, Cendes F, Concha L, Davoodi-Bojd E, Desmond PM, Devinsky O, Doherty CP, Domin M, Duncan JS, Focke NK, Foley SF, Gambardella A, Gleichgerrcht E, Guerrini R, Hamandi K, Ishikawa A, Keller SS, Kochunov PV, Kotikalapudi R, Kreilkamp BAK, Kwan P, Labate A, Langner S, Lenge M, Liu M, Lui E, Martin P, Mascalchi M, Moreira JCV, Morita-Sherman ME, O'Brien TJ, Pardoe HR, Pariente JC, Ribeiro LF, Richardson MP, Rocha CS, Rodríguez-Cruces R, Rosenow F, Severino M, Sinclair B, Soltanian-Zadeh H, Striano P, Taylor PN, Thomas RH, Tortora D, Velakoulis D, Vezzani A, Vivash L, von Podewils F, Vos SB, Weber B, Winston GP, Yasuda CL, Zhu AH, Thompson PM, Whelan CD, Jahanshad N, Sisodiya SM, McDonald CR. Hatton SN, et al. Among authors: thomas rh. Brain. 2020 Aug 1;143(8):2454-2473. doi: 10.1093/brain/awaa200. Brain. 2020. PMID: 32814957 Free PMC article.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. Crow YJ, et al. Among authors: thomas rh. Am J Med Genet A. 2021 Jan;185(1):15-25. doi: 10.1002/ajmg.a.61907. Epub 2020 Oct 7. Am J Med Genet A. 2021. PMID: 33029936
Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study.
Larivière S, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda C, Bonilha L, Gleichgerrcht E, Focke NK, Domin M, von Podewills F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, O'Brien TJ, Sinclair B, Vivash L, Desmond PM, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Tortora D, Hatton SN, Vos SB, Duncan JS, Whelan CD, Thompson PM, Sisodiya SM, Bernasconi A, Labate A, McDonald CR, Bernasconi N, Bernhardt BC. Larivière S, et al. Among authors: thomas rh. Sci Adv. 2020 Nov 18;6(47):eabc6457. doi: 10.1126/sciadv.abc6457. Print 2020 Nov. Sci Adv. 2020. PMID: 33208365 Free PMC article.
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. Accogli A, et al. Among authors: thomas rh. Neurology. 2021 Aug 10;97(6):e577-e586. doi: 10.1212/WNL.0000000000012298. Epub 2021 Jun 2. Neurology. 2021. PMID: 34078716 Free PMC article.
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Altmann A, Ryten M, Di Nunzio M, Ravizza T, Tolomeo D, Reynolds RH, Somani A, Bacigaluppi M, Iori V, Micotti E, Di Sapia R, Cerovic M, Palma E, Ruffolo G, Botía JA, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bargallo N, Bartolini E, Bender B, Bergo FPG, Bernardes T, Bernasconi A, Bernasconi N, Bernhardt BC, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carlson C, Carr SJA, Cavalleri GL, Cendes F, Chen J, Chen S, Cherubini A, Concha L, David P, Delanty N, Depondt C, Devinsky O, Doherty CP, Domin M, Focke NK, Foley S, Franca W, Gambardella A, Guerrini R, Hamandi K, Hibar DP, Isaev D, Jackson GD, Jahanshad N, Kälviäinen R, Keller SS, Kochunov P, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Kwan P, Labate A, Langner S, Lenge M, Liu M, Martin P, Mascalchi M, Meletti S, Morita-Sherman ME, O'Brien TJ, Pariente JC, Richardson MP, Rodriguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Striano P, Thesen T, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Wiest R, Yasuda CL, Zhang G, Zhang J; ENIGMA-Epilepsy Working Group; Leu C, Avbersek A; EpiPGX Consortium; Thom M, Whelan CD, Thompson P, McDonald CR, Vezzani A, Sisodiya SM. Altmann A, et al. Among authors: thomas rh. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12758. doi: 10.1111/nan.12758. Epub 2021 Sep 5. Neuropathol Appl Neurobiol. 2022. PMID: 34388852 Free PMC article.
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Shakeshaft A, et al. Among authors: thomas rh. Sci Rep. 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. Sci Rep. 2022. PMID: 35190554 Free PMC article.
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
Park BY, Larivière S, Rodríguez-Cruces R, Royer J, Tavakol S, Wang Y, Caciagli L, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Alvim MKM, Yasuda C, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp BAK, Domin M, von Podewils F, Langner S, Rummel C, Rebsamen M, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Law M, Sinclair B, Vivash L, Kwan P, Desmond PM, Malpas CB, Lui E, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Parodi C, Tortora D, Hatton SN, Vos SB, Duncan JS, Galovic M, Whelan CD, Bargalló N, Pariente J, Conde-Blanco E, Vaudano AE, Tondelli M, Meletti S, Kong XZ, Francks C, Fisher SE, Caldairou B, Ryten M, Labate A, Sisodiya SM, Thompson PM, McDonald CR, Bernasconi A, Bernasconi N, Bernhardt BC. Park BY, et al. Among authors: thomas rh. Brain. 2022 May 24;145(4):1285-1298. doi: 10.1093/brain/awab417. Brain. 2022. PMID: 35333312 Free PMC article.
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data.
Lopez SM, Aksman LM, Oxtoby NP, Vos SB, Rao J, Kaestner E, Alhusaini S, Alvim M, Bender B, Bernasconi A, Bernasconi N, Bernhardt B, Bonilha L, Caciagli L, Caldairou B, Caligiuri ME, Calvet A, Cendes F, Concha L, Conde-Blanco E, Davoodi-Bojd E, de Bézenac C, Delanty N, Desmond PM, Devinsky O, Domin M, Duncan JS, Focke NK, Foley S, Fortunato F, Galovic M, Gambardella A, Gleichgerrcht E, Guerrini R, Hamandi K, Ives-Deliperi V, Jackson GD, Jahanshad N, Keller SS, Kochunov P, Kotikalapudi R, Kreilkamp BAK, Labate A, Larivière S, Lenge M, Lui E, Malpas C, Martin P, Mascalchi M, Medland SE, Meletti S, Morita-Sherman ME, Owen TW, Richardson M, Riva A, Rüber T, Sinclair B, Soltanian-Zadeh H, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tondelli M, Vaudano AE, Vivash L, Wang Y, Weber B, Whelan CD, Wiest R, Winston GP, Yasuda CL, McDonald CR, Alexander DC, Sisodiya SM, Altmann A; ENIGMA-Epilepsy Working Group. Lopez SM, et al. Epilepsia. 2022 Aug;63(8):2081-2095. doi: 10.1111/epi.17316. Epub 2022 Jun 25. Epilepsia. 2022. PMID: 35656586 Free PMC article.
338 results