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	1.	Acetyl-dl-leucine in Niemann-Pick type C: A case series. [electronic resource] by Bremova, Tatiana Malinová, Věra Amraoui, Yasmina Mengel, Eugen Reinke, Jörg Kolníková, Miriam Strupp, Michael Producer: 20160211 In: Neurology vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. [electronic resource] by Kolnikova, Miriam Jungova, Petra Skopkova, Martina Foltan, Tomas Gasperikova, Daniela Mattosova, Slavomira Chandoga, Jan Producer: 20190529 In: Journal of molecular neuroscience : MN vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review. [electronic resource] by Pineda, Mercedes Juríčková, Katarína Karimzadeh, Parvaneh Kolniková, Miriam Malinová, Věra Torres, Juan Kolb, Stefan A Producer: 20200330 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene. [electronic resource] by Sutovský, Stanislav Kolníková, Miriam Petrovic, Róbert Kollár, Branislav Siarnik, Pavel Chandoga, Ján Fischerová, Mária Turcáni, Peter Producer: 20150310 In: Neuro endocrinology letters vol. 35 Availability: No items available. Save to lists Add to cart (remove)
	5.	Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. [electronic resource] by Surovy, Milan Soltysova, Andrea Kolnikova, Miriam Sykora, Pavol Ilencikova, Denisa Ficek, Andrej Radvanszky, Jan Kadasi, Ludevit Producer: 20160913 In: General physiology and biophysics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. [electronic resource] by Danis, Daniel Brennerova, Katarina Skopkova, Martina Kurdiova, Timea Ukropec, Jozef Stanik, Juraj Kolnikova, Miriam Gasperikova, Daniela Producer: 20190904 In: Endocrine regulations vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene. [electronic resource] by Kolnikova, Miriam Skopkova, Martina Ilencikova, Denisa Foltan, Tomas Payerova, Jaroslava Danis, Daniel Klimes, Iwar Stanik, Juraj Gasperikova, Daniela Producer: 20180924 In: Seizure vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review. [electronic resource] by Pineda, Mercedes Juríčková, Katarína Karimzadeh, Parvaneh Kolnikova, Miriam Malinova, Vera Insua, Jose Luis Velten, Christian Kolb, Stefan A Producer: 20190419 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. [electronic resource] by Skopkova, Martina Hennig, Friederike Shin, Byung-Sik Turner, Clesson E Stanikova, Daniela Brennerova, Katarina Stanik, Juraj Fischer, Ute Henden, Lyndal Müller, Ulrich Steinberger, Daniela Leshinsky-Silver, Esther Bottani, Armand Kurdiova, Timea Ukropec, Jozef Nyitrayova, Olga Kolnikova, Miriam Klimes, Iwar Borck, Guntram Bahlo, Melanie Haas, Stefan A Kim, Joo-Ran Lotspeich-Cole, Leda E Gasperikova, Daniela Dever, Thomas E Kalscheuer, Vera M Producer: 20180109 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)