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	1.	Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family. [electronic resource] by Safka Brožková, Dana Nevšímalová, Soňa Mazanec, Radim Rautenstrauss, Bernd Seeman, Pavel Producer: 20130107 In: Neuromuscular disorders : NMD vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases. [electronic resource] by Staněk, David Sedláčková, Lucie Seeman, Pavel Šafka Brožková, Dana Laššuthová, Petra Producer: 20210302 In: Genetic testing and molecular biomarkers vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. [electronic resource] by Brozková, Dana Mazanec, Radim Haberlová, Jana Sakmaryová, Iva Subrt, Ivan Seeman, Pavel Producer: 20100525 In: Genetic testing and molecular biomarkers vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family. [electronic resource] by Šafka Brožková, Dana Laštůvková, Jana Machalová, Eliška Lisoňová, Jana Trková, Marie Seeman, Pavel Producer: 20130524 In: International journal of pediatric otorhinolaryngology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient. [electronic resource] by Laššuthová, Petra Šafka Brožková, Dana Neupauerová, Jana Krůtová, Marcela Mazanec, Radim Seeman, Pavel Producer: 20180215 In: Neuromuscular disorders : NMD vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. [electronic resource] by Šafka Brozková, Dana Laššuthová, Petra Neupauerová, Jana Krůtová, Marcela Haberlová, Jana Stejskal, David Seeman, Pavel Producer: 20130829 In: Brain : a journal of neurology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. [electronic resource] by Laššuthová, Petra Šafka Brožková, Dana Krůtová, Marcela Mazanec, Radim Züchner, Stephan Gonzalez, Michael A Seeman, Pavel Producer: 20160726 In: Brain : a journal of neurology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. [electronic resource] by Meszarosova, Anna Uhrova Seeman, Pavel Jencik, Jan Drabova, Jana Cibochova, Renata Stellmachova, Julia Safka Brozkova, Dana Producer: 20210419 In: Neuroscience letters vol. 721 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. [electronic resource] by Marková, Simona Šafka Brožková, Dana Mészárosová, Anna Neupauerová, Jana Groh, Daniel Křečková, Gabriela Laššuthová, Petra Seeman, Pavel Producer: 20170317 In: International journal of pediatric otorhinolaryngology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. [electronic resource] by Laššuthová, Petra Šafka Brožková, Dana Krůtová, Marcela Neupauerová, Jana Haberlová, Jana Mazanec, Radim Dřímal, Pavel Seeman, Pavel Producer: 20171107 In: Orphanet journal of rare diseases vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. [electronic resource] by Brožková, Dana Šafka Posádka, Jan Laššuthová, Petra Mazanec, Radim Haberlová, Jana Sišková, Dana Sakmaryová, Iva Neupauerová, Jana Seeman, Pavel Producer: 20140528 In: Molecular medicine reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8. [electronic resource] by Šafka Brožková, Dana Paulasová Schwabová, Jaroslava Neupauerová, Jana Sabová, Jana Krůtová, Marcela Peřina, Vladimír Trková, Marie Laššuthová, Petra Seeman, Pavel Producer: 20170515 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient. [electronic resource] by Uhrova Meszarosova, Anna Safka Brozkova, Dana Vyhnalek, Martin Mazanec, Radim Lastuvkova, Jana Trkova, Marie Bittoova, Martina Soldatova, Inna Seeman, Pavel Producer: 20190212 In: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. [electronic resource] by Marková, Simona Poisson Brožková, Dana Šafka Laššuthová, Petra Mészárosová, Anna Krůtová, Marcela Neupauerová, Jana Rašková, Dagmar Trková, Marie Staněk, David Seeman, Pavel Producer: 20180727 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy. [electronic resource] by Brožková, Dana Mazanec, Radim Rychlý, Zdeněk Haberlová, Jana Böhm, Jiří Staněk, Jan Plevová, Pavlína Lisoňová, Jana Sabová, Jana Sakmaryová, Iva Seeman, Pavel Producer: 20111205 In: Muscle & nerve vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. [electronic resource] by Schwabova, Jaroslava Brozkova, Dana Safka Petrak, Borivoj Mojzisova, Mahulena Pavlickova, Klara Haberlova, Jana Mrazkova, Lenka Hedvicakova, Petra Hornofova, Ludmila Kaluzova, Marie Fencl, Filip Krutova, Marcela Zamecnik, Josef Seeman, Pavel Producer: 20140806 In: Journal of neurogenetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene. [electronic resource] by Čada, Zdeněk Šafka Brožková, Dana Balatková, Zuzana Plevová, Pavlína Rašková, Dagmar Laštůvková, Jana Černý, Rudolf Bandúrová, Veronika Koucký, Vladimír Hrubá, Silvie Komarc, Martin Jenčík, Ján Poisson Marková, Simona Plzák, Jan Kluh, Jan Seeman, Pavel Producer: 20200218 In: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery vol. 276 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin. [electronic resource] by Mašindová, Ivica Šoltýsová, Andrea Varga, Lukáš Mátyás, Petra Ficek, Andrej Hučková, Miloslava Sůrová, Martina Šafka-Brožková, Dana Anwar, Saima Bene, Judit Straka, Slavomír Janicsek, Ingrid Ahmed, Zubair M Seeman, Pavel Melegh, Béla Profant, Milan Klimeš, Iwar Riazuddin, Saima Kádasi, Ľudevít Gašperíková, Daniela Producer: 20160412 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. [electronic resource] by Safka Brozkova, Dana Deconinck, Tine Griffin, Laurie Beth Ferbert, Andreas Haberlova, Jana Mazanec, Radim Lassuthova, Petra Roth, Christian Pilunthanakul, Thanita Rautenstrauss, Bernd Janecke, Andreas R Zavadakova, Petra Chrast, Roman Rivolta, Carlo Zuchner, Stephan Antonellis, Anthony Beg, Asim A De Jonghe, Peter Senderek, Jan Seeman, Pavel Baets, Jonathan Producer: 20151013 In: Brain : a journal of neurology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay. [electronic resource] by Weber, Megan L Hsin, Hong-Yuan Kalay, Ersan BroŽková, Dana S Shimizu, Takehiko Bayram, Merve Deeley, Kathleen Küchler, Erika C Forella, Jessalyn Ruff, Timothy D Trombetta, Vanessa M Sencak, Regina C Hummel, Michael Briseño-Ruiz, Jessica Revu, Shankar K Granjeiro, José M Antunes, Leonardo S Antunes, Livia A Abreu, Fernanda V Costa, Marcelo C Tannure, Patricia N Koruyucu, Mine Patir, Asli Poletta, Fernando A Mereb, Juan C Castilla, Eduardo E Orioli, Iêda M Marazita, Mary L Ouyang, Hongjiao Jayaraman, Thottala Seymen, Figen Vieira, Alexandre R Producer: 20140911 In: BMC medical genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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