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Items: 1 to 50 of 523

1.

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.

Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P.

Eur Arch Otorhinolaryngol. 2019 Sep 24. doi: 10.1007/s00405-019-05649-5. [Epub ahead of print]

PMID:
31552524
2.

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.

Wu J, Ma S, Sandhoff R, Ming Y, Hotz-Wagenblatt A, Timmerman V, Bonello-Palot N, Schlotter-Weigel B, Auer-Grumbach M, Seeman P, Löscher WN, Reindl M, Weiss F, Mah E, Weisshaar N, Madi A, Mohr K, Schlimbach T, Velasco Cárdenas RM, Koeppel J, Grünschläger F, Müller L, Baumeister M, Brügger B, Schmitt M, Wabnitz G, Samstag Y, Cui G.

Immunity. 2019 May 21;50(5):1218-1231.e5. doi: 10.1016/j.immuni.2019.03.005. Epub 2019 Apr 2.

PMID:
30952607
3.

Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.

Šedivá M, Laššuthová P, Zámečník J, Sedláčková L, Seeman P, Haberlová J.

Eur J Med Genet. 2019 Jan 25. pii: S1769-7212(18)30486-5. doi: 10.1016/j.ejmg.2019.01.009. [Epub ahead of print]

PMID:
30690205
4.

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.

Sedláčková L, Laššuthová P, Štěrbová K, Haberlová J, Vyhnálková E, Neupauerová J, Staněk D, Šedivá M, Kršek P, Seeman P.

Neuropediatrics. 2019 Feb;50(1):57-60. doi: 10.1055/s-0038-1676288. Epub 2018 Dec 5.

PMID:
30517966
5.

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.

Uhrova Meszarosova A, Safka Brozkova D, Vyhnalek M, Mazanec R, Lastuvkova J, Trkova M, Bittoova M, Soldatova I, Seeman P.

J Clin Neurosci. 2019 Jan;59:337-339. doi: 10.1016/j.jocn.2018.10.094. Epub 2018 Nov 13.

PMID:
30446360
6.

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.

Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J.

Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14.

PMID:
30028002
7.

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Staněk D, Laššuthová P, Štěrbová K, Vlčková M, Neupauerová J, Krůtová M, Seeman P.

Orphanet J Rare Dis. 2018 May 2;13(1):71. doi: 10.1186/s13023-018-0812-8.

8.

New Dopamine D2 Receptor Agonist, [3H]MCL-536, for Detecting Dopamine D2high Receptors in Vivo.

Subburaju S, Sromek AW, Seeman P, Neumeyer JL.

ACS Chem Neurosci. 2018 Jun 20;9(6):1283-1289. doi: 10.1021/acschemneuro.8b00096. Epub 2018 Apr 16.

PMID:
29641175
9.

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

Borgulová I, Soldatova I, Putzová M, Malíková M, Neupauerová J, Marková SP, Trková M, Seeman P.

J Hum Genet. 2018 Jul;63(7):803-810. doi: 10.1038/s10038-018-0444-9. Epub 2018 Apr 10.

PMID:
29636544
10.

Structural Investigation of the Dopamine-2 Receptor Agonist Bromocriptine Binding to Dimeric D2HighR and D2LowR States.

Salmas RE, Seeman P, Stein M, Durdagi S.

J Chem Inf Model. 2018 Apr 23;58(4):826-836. doi: 10.1021/acs.jcim.7b00722. Epub 2018 Mar 29.

PMID:
29537837
11.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

12.

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15.

PMID:
29449460
13.

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.

Štěrbová K, Vlčková M, Klement P, Neupauerová J, Staněk D, Zůnová H, Seeman P, Laššuthová P.

Neuropediatrics. 2018 Jun;49(3):204-208. doi: 10.1055/s-0038-1626708. Epub 2018 Feb 14.

PMID:
29444535
14.

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

Marková SP, Brožková DŠ, Laššuthová P, Mészárosová A, Krůtová M, Neupauerová J, Rašková D, Trková M, Staněk D, Seeman P.

Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi: 10.1089/gtmb.2017.0155.

PMID:
29425068
15.

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P.

Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5.

PMID:
28872899
16.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW.

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.

PMID:
28860329
17.

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

Mészárosová AU, Grečmalová D, Brázdilová M, Dvořáčková N, Kalina Z, Čermáková M, Vávrová D, Smetanová I, Staněk D, Seeman P.

Ann Hum Genet. 2017 Nov;81(6):249-257. doi: 10.1111/ahg.12206. Epub 2017 Jul 23.

PMID:
28736820
18.

Analysis of the Glutamate Agonist LY404,039 Binding to Nonstatic Dopamine Receptor D2 Dimer Structures and Consensus Docking.

Salmas RE, Seeman P, Aksoydan B, Erol I, Kantarcioglu I, Stein M, Yurtsever M, Durdagi S.

ACS Chem Neurosci. 2017 Jun 21;8(6):1404-1415. doi: 10.1021/acschemneuro.7b00070. Epub 2017 Mar 22.

PMID:
28272861
19.

KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.

Štěrbová K, Laššuthová P, Perníková I, Beran M, Neupauerová J, Kršek P, Seeman P.

Pediatr Neurol. 2017 Feb;67:e3-e4. doi: 10.1016/j.pediatrneurol.2016.11.007. Epub 2016 Dec 8. No abstract available.

PMID:
28065823
20.

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Šafka Brožková D, Paulasová Schwabová J, Neupauerová J, Sabová J, Krůtová M, Peřina V, Trková M, Laššuthová P, Seeman P.

J Hum Genet. 2017 Mar;62(3):431-435. doi: 10.1038/jhg.2016.148. Epub 2016 Dec 22.

PMID:
28003645
21.

Biological Insights of the Dopaminergic Stabilizer ACR16 at the Binding Pocket of Dopamine D2 Receptor.

Ekhteiari Salmas R, Seeman P, Aksoydan B, Stein M, Yurtsever M, Durdagi S.

ACS Chem Neurosci. 2017 Apr 19;8(4):826-836. doi: 10.1021/acschemneuro.6b00396. Epub 2017 Jan 20.

PMID:
28001043
22.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.

PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.

23.

Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient.

Laššuthová P, Šafka Brožková D, Neupauerová J, Krůtová M, Mazanec R, Seeman P.

Neuromuscul Disord. 2017 Jan;27(1):57-60. doi: 10.1016/j.nmd.2016.09.010. Epub 2016 Sep 22.

PMID:
27908631
24.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Mészárosová AU, Putzová M, Čermáková M, Vávrová D, Doležalová K, Smetanová I, Stejskal D, Beetz C, Seeman P.

J Hum Genet. 2016 Oct;61(10):845-850. doi: 10.1038/jhg.2016.73. Epub 2016 Jun 23.

PMID:
27334366
25.

Misassembly of full-length Disrupted-in-Schizophrenia 1 protein is linked to altered dopamine homeostasis and behavioral deficits.

Trossbach SV, Bader V, Hecher L, Pum ME, Masoud ST, Prikulis I, Schäble S, de Souza Silva MA, Su P, Boulat B, Chwiesko C, Poschmann G, Stühler K, Lohr KM, Stout KA, Oskamp A, Godsave SF, Müller-Schiffmann A, Bilzer T, Steiner H, Peters PJ, Bauer A, Sauvage M, Ramsey AJ, Miller GW, Liu F, Seeman P, Brandon NJ, Huston JP, Korth C.

Mol Psychiatry. 2016 Nov;21(11):1561-1572. doi: 10.1038/mp.2015.194. Epub 2016 Jan 12.

26.

Cannabidiol is a partial agonist at dopamine D2High receptors, predicting its antipsychotic clinical dose.

Seeman P.

Transl Psychiatry. 2016 Oct 18;6(10):e920. doi: 10.1038/tp.2016.195.

27.

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P, Šafka Brožková D, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dřímal P, Seeman P.

Orphanet J Rare Dis. 2016 Aug 22;11(1):118. doi: 10.1186/s13023-016-0500-5.

28.

The signaling pathway of dopamine D2 receptor (D2R) activation using normal mode analysis (NMA) and the construction of pharmacophore models for D2R ligands.

Salmas RE, Stein M, Yurtsever M, Seeman P, Erol I, Mestanoglu M, Durdagi S.

J Biomol Struct Dyn. 2017 Jul;35(9):2040-2048. doi: 10.1080/07391102.2016.1206487. Epub 2016 Jul 27.

PMID:
27367058
29.

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

Marková S, Šafka Brožková D, Mészárosová A, Neupauerová J, Groh D, Křečková G, Laššuthová P, Seeman P.

Int J Pediatr Otorhinolaryngol. 2016 Jul;86:27-33. doi: 10.1016/j.ijporl.2016.04.005. Epub 2016 Apr 7.

PMID:
27260575
30.

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P.

Ann Hum Genet. 2016 May;80(3):182-6. doi: 10.1111/ahg.12151. Epub 2016 Feb 24.

31.

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

Laššuthová P, Šafka Brožková D, Krůtová M, Mazanec R, Züchner S, Gonzalez MA, Seeman P.

Brain. 2016 Apr;139(Pt 4):e26. doi: 10.1093/brain/awv411. Epub 2016 Feb 11. No abstract available.

32.

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.

Šafka Brožková D, Haberlová J, Mazanec R, Laštůvková J, Seeman P.

Clin Genet. 2016 Aug;90(2):161-5. doi: 10.1111/cge.12745. Epub 2016 Mar 4.

PMID:
26822750
33.

Binding Interactions of Dopamine and Apomorphine in D2High and D2Low States of Human Dopamine D2 Receptor Using Computational and Experimental Techniques.

Durdagi S, Salmas RE, Stein M, Yurtsever M, Seeman P.

ACS Chem Neurosci. 2016 Feb 17;7(2):185-95. doi: 10.1021/acschemneuro.5b00271. Epub 2015 Dec 22.

PMID:
26645629
34.

Glutamate drug reduces dopamine inhibition of phosphorylation.

Su P, Lu JY, Seeman P, Liu F.

Synapse. 2016 Feb;70(2):45-8. doi: 10.1002/syn.21874. Epub 2015 Dec 2. No abstract available.

PMID:
26583745
35.

COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report.

Laššuthová P, Beharka R, Krůtová M, Neupauerová J, Seeman P.

Clin Genet. 2016 Apr;89(4):512-514. doi: 10.1111/cge.12649. Epub 2015 Aug 25. No abstract available.

PMID:
26302975
36.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J.

Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13.

37.

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D.

PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.

38.

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR.

PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar.

39.

Parkinson's disease treatment may cause impulse-control disorder via dopamine D3 receptors.

Seeman P.

Synapse. 2015 Apr;69(4):183-9. doi: 10.1002/syn.21805. Epub 2015 Feb 3. Review.

PMID:
25645960
40.

Parkinson's disease: low-dose haloperidol increases dopamine receptor sensitivity and clinical response.

Hudson CJ, Seeman P, Seeman MV.

Parkinsons Dis. 2014;2014:684973. doi: 10.1155/2014/684973. Epub 2014 Nov 20.

41.

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.

Laššuthová P, Brožková DŠ, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dvořáčková N, Goldenberg Z, Seeman P.

Neurogenetics. 2015 Jan;16(1):43-54. doi: 10.1007/s10048-014-0427-8. Epub 2014 Oct 24.

PMID:
25342199
42.

Therapeutic occupation of dopamine D2 antipsychotic receptors in Alzheimer's disease.

Seeman P.

Int J Geriatr Psychiatry. 2014 Oct;29(10):1096. doi: 10.1002/gps.4133. No abstract available.

PMID:
25256309
43.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group, Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW.

Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19.

PMID:
25085517
44.

Depression treatment by withdrawal of short-term low-dose antipsychotic, a proof-of-concept randomized double-blind study.

Kennedy SH, Giacobbe P, Placenza F, Hudson CJ, Seeman P, Seeman MV.

J Affect Disord. 2014 Sep;166:139-43. doi: 10.1016/j.jad.2014.04.014. Epub 2014 May 5.

PMID:
25012422
45.

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM.

Hum Mol Genet. 2014 Oct 15;23(20):5464-78. doi: 10.1093/hmg/ddu271. Epub 2014 Jun 1.

46.

(18)F-MCL-524, an (18)F-Labeled Dopamine D2 and D3 Receptor Agonist Sensitive to Dopamine: A Preliminary PET Study.

Finnema SJ, Stepanov V, Nakao R, Sromek AW, Zhang T, Neumeyer JL, George SR, Seeman P, Stabin MG, Jonsson C, Farde L, Halldin C.

J Nucl Med. 2014 Jul;55(7):1164-70. doi: 10.2967/jnumed.113.133876. Epub 2014 May 1.

47.

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Lassuthova P, Sišková D, Haberlová J, Sakmaryová I, Filouš A, Seeman P.

Orphanet J Rare Dis. 2014 Apr 1;9:46. doi: 10.1186/1750-1172-9-46.

48.

Discovery of why acute lymphoblastic leukaemia cells are killed by asparaginase: Adventures of a young post-doctoral student, Bertha K Madras.

Seeman P.

J Med Biogr. 2014 May;22(2):90-2. doi: 10.1177/0967772013498541. Epub 2013 Sep 27.

PMID:
24585596
49.

Clozapine, a fast-off-D2 antipsychotic.

Seeman P.

ACS Chem Neurosci. 2014 Jan 15;5(1):24-9. doi: 10.1021/cn400189s. Epub 2013 Nov 18. Review.

50.

Is schizophrenia a dopamine supersensitivity psychotic reaction?

Seeman MV, Seeman P.

Prog Neuropsychopharmacol Biol Psychiatry. 2014 Jan 3;48:155-60. doi: 10.1016/j.pnpbp.2013.10.003. Epub 2013 Oct 12. Review.

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