P
Pavel Seeman
Researcher at Charles University in Prague
Publications - 123
Citations - 3841
Pavel Seeman is an academic researcher from Charles University in Prague. The author has contributed to research in topics: Population & Mutation (genetic algorithm). The author has an hindex of 26, co-authored 118 publications receiving 3333 citations.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Joy Irobi,Katrien Van Impe,Pavel Seeman,Albena Jordanova,Ines Dierick,Nathalie Verpoorten,Andrej Michalik,Els De Vriendt,An Jacobs,Veerle Van Gerwen,Krist'l Vennekens,Radim Mazanec,Ivailo Tournev,David Hilton-Jones,Kevin Talbot,Ivo Kremensky,Ludo Van Den Bosch,Wim Robberecht,Joël Vandekerckhove,Christine Van Broeckhoven,Jan Gettemans,Peter De Jonghe,Vincent Timmerman +22 more
TL;DR: The same mutation (K141N) in small heat-shock 22-kDa protein 8 (encoded by HSPB8) is identified in two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, providing further evidence that mutations in heat- shock proteins have an important role in neurodegenerative disorders.
Journal ArticleDOI
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Kristien Verhoeven,Kristl Claeys,Stephan Züchner,Stephan Züchner,J. Michael Schröder,Joachim Weis,Chantal Ceuterick,Albena Jordanova,Eva Nelis,Els De Vriendt,Matthias Van Hul,Pavel Seeman,Radim Mazanec,Gulam Mustafa Saifi,Kinga Szigeti,Pedro Mancias,Ian J. Butler,Andrzej Kochański,Barbara Ryniewicz,Jan De Bleecker,Peter Van den Bergh,Christine Verellen,Rudy Van Coster,Nathalie Goemans,Michaela Auer-Grumbach,Wim Robberecht,Vedrana Milic Rasic,Yoram Nevo,I. Tournev,Velina Guergueltcheva,Filip Roelens,Peter Vieregge,Paolo Vinci,María Teresa García Moreno,H.-J. Christen,Michael E. Shy,James R. Lupski,Jeffery M. Vance,Peter De Jonghe,Vincent Timmerman +39 more
TL;DR: Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials, whereas a smaller group experienced a later onset and milder disease course.
Journal ArticleDOI
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Jijun Wan,Michael Yourshaw,Hafsa Mamsa,Sabine Rudnik-Schöneborn,Manoj P. Menezes,Ji Eun Hong,Derek W. Leong,Derek W. Leong,Jan Senderek,Michael S. Salman,Michael S. Salman,David Chitayat,Pavel Seeman,Arpad von Moers,Luitgard Graul-Neumann,Andrew J. Kornberg,Manuel Castro-Gago,María Jesús Sobrido,Masafumi Sanefuji,Perry B. Shieh,Noriko Salamon,Ronald C. Kim,Harry V. Vinters,Zugen Chen,Klaus Zerres,Monique M. Ryan,Stanley F. Nelson,Joanna C. Jen +27 more
TL;DR: These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.
Journal ArticleDOI
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Annelies Rotthier,Michaela Auer-Grumbach,Katrien Janssens,Jonathan Baets,Anke Penno,Leonardo Almeida-Souza,Kim van Hoof,An Jacobs,Els De Vriendt,Beate Schlotter-Weigel,Wolfgang Löscher,Petr Vondráček,Pavel Seeman,Peter De Jonghe,Patrick Van Dijck,Albena Jordanova,Thorsten Hornemann,Vincent Timmerman +17 more
TL;DR: It is shown that HSAN-I is consistently associated with an increased formation of the neurotoxic 1-deoxysphinganine, suggesting a common pathomechanism for HSAN, which is also associated with the group of HSAN neuropathies associated with SPT defects.