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Items: 1 to 50 of 786

1.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 Feb 4. doi: 10.1111/epi.14657. [Epub ahead of print]

PMID:
30719712
3.

NOP-Targeted Peptide Ligands.

Preti D, Calo' G, Guerrini R.

Handb Exp Pharmacol. 2019 Jan 29. doi: 10.1007/164_2018_198. [Epub ahead of print]

PMID:
30689091
4.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R.

Eur J Hum Genet. 2019 Jan 25. doi: 10.1038/s41431-019-0335-3. [Epub ahead of print]

PMID:
30683929
5.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.

Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

6.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.

Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.

7.

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.

Vignatelli L, Antelmi E, Ceretelli I, Bellini M, Carta C, Cortelli P, Ferini-Strambi L, Ferri R, Guerrini R, Ingravallo F, Marchiani V, Mari F, Pieroni G, Pizza F, Verga MC, Verrillo E, Taruscio D, Plazzi G.

Neurol Sci. 2018 Dec 12. doi: 10.1007/s10072-018-3666-x. [Epub ahead of print]

PMID:
30539345
8.

Pharmacological profile of the neuropeptide S receptor: Dynamic mass redistribution studies.

Ruzza C, Ferrari F, Guerrini R, Marzola E, Preti D, Reinscheid RK, Calo G.

Pharmacol Res Perspect. 2018 Dec 3;6(6):e00445. doi: 10.1002/prp2.445. eCollection 2018 Dec.

9.

Probing the Effect of Sildenafil on Progesterone and Testosterone Production by an Intracellular FRET/BRET Combined Approach.

Casarini L, Riccetti L, Limoncella S, Lazzaretti C, Barbagallo F, Pacifico S, Guerrini R, Tagliavini S, Trenti T, Simoni M, Sola M, Di Rocco G.

Biochemistry. 2019 Feb 12;58(6):799-808. doi: 10.1021/acs.biochem.8b01073. Epub 2018 Dec 21.

PMID:
30532959
10.

Disordered Peptides Looking for Their Native Environment: Structural Basis of CB1 Endocannabinoid Receptor Binding to Pepcans.

Emendato A, Guerrini R, Marzola E, Wienk H, Boelens R, Leone S, Picone D.

Front Mol Biosci. 2018 Nov 16;5:100. doi: 10.3389/fmolb.2018.00100. eCollection 2018.

11.

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.

12.

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N.

Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19.

PMID:
30451291
13.

Nociceptin/Orphanin FQ and Urinary Bladder.

Angelico P, Barchielli M, Lazzeri M, Guerrini R, Calò G.

Handb Exp Pharmacol. 2018 Nov 15. doi: 10.1007/164_2018_182. [Epub ahead of print]

PMID:
30430260
14.

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.

Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9.

15.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

Tonin R, Catarzi S, Caciotti A, Procopio E, Marini C, Guerrini R, Morrone A.

J Neurol. 2019 Jan;266(1):92-101. doi: 10.1007/s00415-018-9084-4. Epub 2018 Oct 31.

16.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

PMID:
30351409
17.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
18.

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A.

BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6.

19.

Management of psychogenic non-epileptic seizures: a multidisciplinary approach.

Gasparini S, Beghi E, Ferlazzo E, Beghi M, Belcastro V, Biermann KP, Bottini G, Capovilla G, Cervellione RA, Cianci V, Coppola G, Cornaggia CM, De Fazio P, De Masi S, De Sarro G, Elia M, Erba G, Fusco L, Gambardella A, Gentile V, Giallonardo AT, Guerrini R, Ingravallo F, Iudice A, Labate A, Lucenteforte E, Magaudda A, Mumoli L, Papagno C, Pesce GB, Pucci E, Ricci P, Romeo A, Quintas R, Sueri C, Vitaliti G, Zoia R, Aguglia U.

Eur J Neurol. 2019 Feb;26(2):205-e15. doi: 10.1111/ene.13818. Epub 2018 Nov 29. Review.

PMID:
30300463
20.

Nociceptin/Orphanin FQ (N/OFQ) conjugated to ATTO594: a novel fluorescent probe for the N/OFQ (NOP) receptor.

Bird MF, Guerrini R, Willets JM, Thompson JP, Caló G, Lambert DG.

Br J Pharmacol. 2018 Dec;175(24):4496-4506. doi: 10.1111/bph.14504. Epub 2018 Nov 6.

21.

The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures.

Vasta R, Cerasa A, Sarica A, Bartolini E, Martino I, Mari F, Metitieri T, Quattrone A, Gambardella A, Guerrini R, Labate A.

Epilepsy Behav. 2018 Oct;87:167-172. doi: 10.1016/j.yebeh.2018.09.008. Epub 2018 Sep 28.

22.

Correction: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Sep 27. doi: 10.1038/s41436-018-0325-9. [Epub ahead of print]

PMID:
30262923
23.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

24.

Ketamine for Refractory Status Epilepticus: A Systematic Review.

Rosati A, De Masi S, Guerrini R.

CNS Drugs. 2018 Nov;32(11):997-1009. doi: 10.1007/s40263-018-0569-6. Review.

PMID:
30232735
25.

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS.

Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31.

PMID:
30171078
26.

NOP receptor pharmacological profile - A dynamic mass redistribution study.

Malfacini D, Simon K, Trapella C, Guerrini R, Zaveri NT, Kostenis E, Calo' G.

PLoS One. 2018 Aug 30;13(8):e0203021. doi: 10.1371/journal.pone.0203021. eCollection 2018.

27.

Correction to: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Aug 29. doi: 10.1038/s41436-018-0284-1. [Epub ahead of print]

PMID:
30158694
28.

Left inferior frontal cortex can compensate the inhibitory functions of right inferior frontal cortex and pre-supplementary motor area.

Gavazzi G, Lenge M, Bartolini E, Bianchi A, Agovi H, Mugnai F, Guerrini R, Giordano F, Viggiano MP, Mascalchi M.

J Neuropsychol. 2018 Aug 29. doi: 10.1111/jnp.12170. [Epub ahead of print]

PMID:
30156753
29.

NOP agonists prevent the antidepressant-like effects of nortriptyline and fluoxetine but not R-ketamine.

Holanda VAD, Santos WB, Asth L, Guerrini R, Calo' G, Ruzza C, Gavioli EC.

Psychopharmacology (Berl). 2018 Nov;235(11):3093-3102. doi: 10.1007/s00213-018-5004-7. Epub 2018 Aug 25.

PMID:
30145654
30.

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.

De Vita D, Mei D, Rutigliano D, Bartalucci N, Cinnante CM, Parrini E, Dilena R, Guerrini R.

Am J Med Genet A. 2018 Dec;176(12):2808-2812. doi: 10.1002/ajmg.a.40503. Epub 2018 Aug 25.

PMID:
30144370
31.

Nociceptin/orphanin FQ receptor agonists increase aggressiveness in the mouse resident-intruder test.

Silva EF, Silva AI, Asth L, Souza LS, Zaveri NT, Guerrini R, Calo' G, Ruzza C, Gavioli EC.

Behav Brain Res. 2019 Jan 1;356:120-126. doi: 10.1016/j.bbr.2018.08.019. Epub 2018 Aug 22.

PMID:
30142397
32.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

PMID:
30093711
33.

Unstable non-coding pentanucleotide repeats destabilize cortical excitability.

Guerrini R, Mei D.

Brain. 2018 Aug 1;141(8):2232-2235. doi: 10.1093/brain/awy196. No abstract available.

PMID:
30060018
34.

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA.

Am J Med Genet A. 2018 Aug;176(8):1748-1752. doi: 10.1002/ajmg.a.38840. Epub 2018 Jul 28.

PMID:
30055040
35.

Conformational Propensity and Biological Studies of Proline Mutated LR Peptides Inhibiting Human Thymidylate Synthase and Ovarian Cancer Cell Growth.

Saxena P, Severi L, Santucci M, Taddia L, Ferrari S, Luciani R, Marverti G, Marraccini C, Tondi D, Mor M, Scalvini L, Vitiello S, Losi L, Fonda S, Pacifico S, Guerrini R, D'Arca D, Ponterini G, Costi MP.

J Med Chem. 2018 Aug 23;61(16):7374-7380. doi: 10.1021/acs.jmedchem.7b01699. Epub 2018 Aug 13.

PMID:
30035541
36.

Neuroimaging in mitochondrial disorders.

Mascalchi M, Montomoli M, Guerrini R.

Essays Biochem. 2018 Jul 20;62(3):409-421. doi: 10.1042/EBC20170109. Print 2018 Jul 20. Review.

PMID:
30030366
37.

Design and Synthesis of 99mTcN-Labeled Dextran-Mannose Derivatives for Sentinel Lymph Node Detection.

Boschi A, Pasquali M, Trapella C, Massi A, Martini P, Duatti A, Guerrini R, Zanirato V, Fantinati A, Marzola E, Giganti M, Uccelli L.

Pharmaceuticals (Basel). 2018 Jul 16;11(3). pii: E70. doi: 10.3390/ph11030070.

38.

Glycation affects fibril formation of Aβ peptides.

Emendato A, Milordini G, Zacco E, Sicorello A, Dal Piaz F, Guerrini R, Thorogate R, Picone D, Pastore A.

J Biol Chem. 2018 Aug 24;293(34):13100-13111. doi: 10.1074/jbc.RA118.002275. Epub 2018 Jun 29.

39.

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.

PMID:
29942082
40.

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project.

PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May.

41.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC.

Eur J Hum Genet. 2018 Aug;26(8):1132-1142. doi: 10.1038/s41431-018-0146-y. Epub 2018 Apr 30.

42.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

43.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R.

Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.

44.

Long-term efficacy of add-on lacosamide treatment in children and adolescents with refractory epilepsies: A single-center observational study.

Rosati A, Ilvento L, Rizzi R, Doccini V, Leo MC, Pugi A, De Masi S, Guerrini R.

Epilepsia. 2018 May;59(5):1004-1010. doi: 10.1111/epi.14071. Epub 2018 Apr 17.

PMID:
29663335
45.

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Mol Genet Metab. 2018 Dec;125(4):359. doi: 10.1016/j.ymgme.2018.02.017. Epub 2018 Mar 14. No abstract available.

PMID:
29548777
46.

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

Barba C, Specchio N, Guerrini R, Tassi L, DeMasi S, Cardinale F, Pellacani S, De Palma L, Battaglia D, Tamburrini G, Didato G, Freri E, Consales A, Nozza P, Zamponi N, Cesaroni E, Di Gennaro G, Esposito V, Giulioni M, Tinuper P, Colicchio G, Rocchi R, Rubboli G, Giordano F, Russo GL, Marras CE, Cossu M.

Epilepsy Behav. 2018 Mar;80:380. doi: 10.1016/j.yebeh.2018.02.021. No abstract available.

PMID:
29525723
47.

In vitro and in vivo characterization of the bifunctional μ and δ opioid receptor ligand UFP-505.

Dietis N, Niwa H, Tose R, McDonald J, Ruggieri V, Filaferro M, Vitale G, Micheli L, Ghelardini C, Salvadori S, Calo G, Guerrini R, Rowbotham DJ, Lambert DG.

Br J Pharmacol. 2018 Jul;175(14):2881-2896. doi: 10.1111/bph.14199. Epub 2018 May 14.

PMID:
29524334
48.

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Ferri L, Malesci D, Fioravanti A, Bagordo G, Filippini A, Ficcadenti A, Manna R, Antuzzi D, Verrecchia E, Donati I, Mignani R, Cavicchi C, Guerrini R, Morrone A.

Clin Chim Acta. 2018 Jun;481:25-33. doi: 10.1016/j.cca.2018.02.021. Epub 2018 Feb 21.

49.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

PMID:
29463858
50.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM.

Neurogenetics. 2018 May;19(2):123-130. doi: 10.1007/s10048-018-0538-8. Epub 2018 Feb 8.

PMID:
29423566

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