المؤلفون: Alena Zumrová, Martin Vyhnalek, Zuzana Musova, Eva Košťálová, Emílie Vyhnálková

المصدر: Neurologie pro praxi. 20:344-350

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6aea8b6be84d114daf0256935344a9cf
https://doi.org/10.36290/neu.2019.139

المؤلفون: Jitka Jireckova, Radim Mazanec, Alena Zumrová, Helena Poupětová, Eva Košťálová, Martin Magner, Hana Vlaskova, Petr Mečíř, Zuzana Musova, Helena Jahnová

المصدر: Journal of Neurology. 266:1953-1959

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neurology, Ataxia, Adolescent, Late onset, Disease, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, Humans, Medicine, 030212 general & internal medicine, Age of Onset, Czech Republic, Tay-Sachs Disease, business.industry, Mental Disorders, Tay-Sachs disease, Middle Aged, medicine.disease, Amyotrophy, Muscular Atrophy, Cohort, Female, Cerebellar atrophy, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80844c089d6efacd0aa328935b019340
https://doi.org/10.1007/s00415-019-09364-3

المؤلفون: Jaroslava Paulasová Schwabová, Jaroslav Jeřábek, Zuzana Musova, Michaela Dankova, Radim Mazanec, Martin Vyhnalek, Emílie Vyhnálková, Alena Zumrová, Silvia Skalská

المصدر: Česká a slovenská neurologie a neurochirurgie.

مصطلحات موضوعية: Czech, Pediatrics, medicine.medical_specialty, Ataxia, business.industry, language, medicine, Surgery, Late onset, Neurology (clinical), medicine.symptom, business, language.human_language

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::98d08b813a9b786a72f68e2d4e82a61f
https://doi.org/10.48095/cccsnn2021397

المؤلفون: Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

المصدر: PLoS ONE, Vol 8, Iss 12, p e82549 (2013)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3859631?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/9653d61cf48c46f79d6d9e29cb829433

الاتاحة: https://doi.org/10.1371/journal.pone.0082549
https://doaj.org/article/9653d61cf48c46f79d6d9e29cb829433

المؤلفون: Alena Zumrová, Radim Mazanec, Martin Vyhnálek, Anna Křepelová, Zuzana Mušová, Stefanie Krilová, Markéta Havlovicová

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.nel.edu/pdf_/26_1/NEL260105C03_PMID15726025_Zumrova_.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.562.9732; http://www.nel.edu/pdf_/26_1/NEL260105C03_PMID15726025_Zumrova_.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.562.9732
http://www.nel.edu/pdf_/26_1/NEL260105C03_PMID15726025_Zumrova_.pdf

المؤلفون: Patrick Shannon, Rosanna Weksberg, Ioana Miron, Kathelijne Keymolen, Jean Mathieu, Zuzana Musova, Arturo Lopez-Castel, Julie Letourneau, Michael D. Wilson, Claudia Spits, Sanaa Choufani, Minggao Liang, Silvie Franck, Stéphanie Tomé, Cynthia Gagnon, Stella Lanni, Christopher E. Pearson, David Chitayat, Sara Seneca, Karen Sermon, Lise Barbé, Zdenek Sedlacek

المساهمون: Faculty of Medicine and Pharmacy, Basic (bio-) Medical Sciences, Reproduction and Genetics, Clinical sciences

المصدر: The American Journal of Human Genetics. 100:488-505

مصطلحات موضوعية: Male, 0301 basic medicine, pre-natal diagnosis, Human Embryonic Stem Cells, 0302 clinical medicine, Pregnancy, Myotonic Dystrophy, Genetics(clinical), Child, Promoter Regions, Genetic, Genetics (clinical), Genetics, Myotonin-protein kinase, Methylation, Pedigree, medicine.anatomical_structure, CpG site, DNA methylation, Chorionic villi, Female, SIX5/DMAHP, DMPK, Adult, Adolescent, congenital myotonic dystrophy, parent-of-origin effect(s), Biology, Myotonic dystrophy, Myotonin-Protein Kinase, Article, Cell Line, DNA/CpG methylation, Young Adult, 03 medical and health sciences, medicine, Humans, Epigenetics, epigenetics, Base Sequence, maternal transmission/maternal inheritance, Sequence Analysis, DNA, DNA Methylation, medicine.disease, 030104 developmental biology, Linear Models, CpG Islands, trinucleotide instability, Age of onset, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d04fdc4968a551c425e61e4245e62c
https://doi.org/10.1016/j.ajhg.2017.01.033

المؤلفون: Irena Rektorová, Eva Parobkova, Zuzana Musova, Adam Tesar, Radoslav Matej, Silvie Johanidesova, Jaromir Kukal, Robert Rusina, Martin Vyhnalek, Magdalena Smetakova, Ilona Eliasova, Jiri Keller

المصدر: Annals of neurologyReferences. 86(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Context (language use), Disease, PRNP, 03 medical and health sciences, 0302 clinical medicine, medicine, Dementia, Gerstmann-Straussler-Scheinker Disease, Humans, Aged, Genetics, Genetic heterogeneity, business.industry, Middle Aged, medicine.disease, Gerstmann–Sträussler–Scheinker syndrome, 3. Good health, 030104 developmental biology, Phenotype, Neurology, Clinical diagnosis, Mutation (genetic algorithm), Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a7b5ec3894b0e5c0957dedd450aa88
https://pubmed.ncbi.nlm.nih.gov/31397917

المؤلفون: Jan Laczó, V. Komarek, Frantisek Zahalka, Zuzana Musova, Alena Zumrová, Jaroslava Paulasová Schwabová, Tomas Maly

المصدر: Journal of the Neurological Sciences. 341:64-67

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ataxia, Adolescent, Posture, Nerve Tissue Proteins, Audiology, Severity of Illness Index, Statistics, Nonparametric, Young Adult, Sensory ataxia, Rating scale, medicine, Humans, Child, Postural Balance, Adult patients, Posturography, Middle Aged, Ataxins, Neurology, Friedreich Ataxia, Postural stability, Female, Neurology (clinical), medicine.symptom, Psychology, Balance impairment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b244343c9d1971690cde501dbe014292
https://doi.org/10.1016/j.jns.2014.04.001

المؤلفون: Zdenek Sedlacek, Regina Fillerova, Petr Kanovsky, Katerina Mensikova, Eva Kriegova, Alena Santava, Michaela Kaiserová, Alena Zumrová, Anna Krepelova, Peter Vasovčák, Zuzana Musova

المصدر: The Cerebellum. 13:331-337

مصطلحات موضوعية: Ataxia, Biology, Frameshift mutation, Ophthalmoparesis, ATP-Dependent Proteases, medicine, Humans, Spinocerebellar Ataxias, Missense mutation, Genetic Predisposition to Disease, Cognitive decline, Frameshift Mutation, Aged, Czech Republic, Spinocerebellar Degenerations, Genetics, Ophthalmoplegia, Cerebellar ataxia, medicine.disease, Phenotype, Neurology, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, Female, Neurology (clinical), medicine.symptom, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2fe775643fe87a30f79d98cdbb9239
https://doi.org/10.1007/s12311-013-0538-z

المؤلفون: Zuzana Musova, Zdenek Sedlacek, Pavlína Plevová, Anna Krepelova, Ludmila Apltová, Alena Zumrová, Martin Vyhnalek, Jiri Klempir, Marta Kopeckova, Jan Roth, Radim Mazanec

المصدر: The Cerebellum. 12:155-161

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Pathology, Multiple Sclerosis, Genotype, DNA Mutational Analysis, Population, Nerve Tissue Proteins, Context (language use), Atrophy, Gene Frequency, Trinucleotide Repeats, medicine, Humans, Spinocerebellar Ataxias, Amyotrophic lateral sclerosis, education, Allele frequency, Czech Republic, Family Health, education.field_of_study, business.industry, Multiple sclerosis, Amyotrophic Lateral Sclerosis, Myoclonic Epilepsies, Progressive, medicine.disease, Neurology, Spinocerebellar ataxia, Female, Neurology (clinical), business, Trinucleotide repeat expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b3ca6f4d2f29a5981ff5da59f4d51c
https://doi.org/10.1007/s12311-012-0403-5

المؤلفون: Radka Jaklova, Radim Mazanec, Tomas Prochazka, Edvard Ehler, Zuzana Musova, Josef Kraus, Tatana Marikova, Zdenek Sedlacek, Jiri Vales, Petr Koukal, Anna Krepelova, Marketa Havlovicova

المصدر: American Journal of Medical Genetics Part A. :1365-1374

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Protein Serine-Threonine Kinases, Biology, Myotonic dystrophy, Genomic Instability, Myotonin-Protein Kinase, Young Adult, Gene Frequency, Trinucleotide Repeats, Genetics, medicine, Humans, Family, Muscular dystrophy, Allele, Repeated sequence, Gene, Genetics (clinical), Sequence (medicine), Base Sequence, Middle Aged, Myotonia, medicine.disease, Phenotype, Pedigree, Case-Control Studies, Female, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05041fab9766da3cbe979eafa0c6673b
https://doi.org/10.1002/ajmg.a.32987

المؤلفون: B. Petrak, Zuzana Musova, Lenka Kinstova, Anna Krepelova, Sarka Bendova, Eva Rausova, Tatana Marikova

المصدر: Journal of Molecular Neuroscience. 31:273-279

مصطلحات موضوعية: Male, Genetics, Mutation rate, Mutation, Neurofibromatosis 1, DNA Mutational Analysis, General Medicine, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Cellular and Molecular Neuroscience, Genes, Neurofibromatosis 1, medicine, Humans, Microsatellite, Female, Multiplex, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Gene, Chromatography, High Pressure Liquid, Czech Republic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d9bc63635aa24a2be21479bee86ccd
https://doi.org/10.1385/jmn:31:03:273

المؤلفون: Edvard Ehler, Miroslav Mareš, Alena Novotna, Milan Mrklovský, Zuzana Musova

المصدر: Clinical neurology and neurosurgery. 114(10)

مصطلحات موضوعية: Adult, Diagnostic Imaging, Pathology, medicine.medical_specialty, Multiple Sclerosis, medicine.diagnostic_test, business.industry, Multiple sclerosis, Myotonic dystrophy type 2, Brain, Magnetic resonance imaging, General Medicine, medicine.disease, Myotonic dystrophy, Spinal Cord, medicine, Humans, Myotonic Dystrophy, Surgery, Female, Neurology (clinical), business, Myotonic Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137773e32fae77e59582bd6a1da27766
https://pubmed.ncbi.nlm.nih.gov/22502787

المؤلفون: Michal Hrdlicka, Marketa Havlovicova, Marketa Vlckova, Zuzana Musova, Lenka Dvorakova, Dhahuse Novotna, Zdenek Sedlacek, Alzbeta Vazna

المصدر: American Journal of Medical Genetics Part A; Vol 152A

مصطلحات موضوعية: Adult, Male, Parents, Locus (genetics), Biology, 03 medical and health sciences, Fragile X Mental Retardation Protein, Pregnancy, X Chromosome Inactivation, Intellectual Disability, Genetics, medicine, Humans, Allele, Autistic Disorder, Child, Skewed X-inactivation, Gene, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Chromosomes, Human, X, 030305 genetics & heredity, Infant, Chromosome Breakage, Chromosome Fragility, DNA Methylation, Middle Aged, medicine.disease, FMR1, Fragile X syndrome, Blotting, Southern, Genetic Loci, Karyotyping, Female, Chromosome Deletion, Trinucleotide Repeat Expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::641876053e9e4768d51652c9a67fe726
https://pubmed.ncbi.nlm.nih.gov/20425835