Search Results - "Kaluzova, Marie"

Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma 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

“…Abstract Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular…”
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The importance of advanced parental age in the origin of neurofibromatosis type 1 by Snajderova, Marta, Riccardi, Vincent M., Petrak, Borivoj, Zemkova, Daniela, Zapletalova, Jirina, Mardesic, Tonko, Petrakova, Alena, Lanska, Vera, Marikova, Tatiana, Bendova, Sarka, Havlovicova, Marketa, Kaluzova, Marie

“…Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,000–1/5,000 in various population‐based…”
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