Search Results - "Volha, Skrahina"

A case of probable Parkinson's disease after SARS-CoV-2 infection by Cohen, Mikhal E, Eichel, Roni, Steiner-Birmanns, Bettina, Janah, Amir, Ioshpa, Maxim, Bar-Shalom, Rachel, Paul, Jefri J, Gaber, Hanaa, Skrahina, Volha, Bornstein, Natan M, Yahalom, Gilad

“…Parkinson's disease or parkinsonism have been described after infections by viruses, such as influenza A, Epstein-Barr virus, varicella zoster, hepatitis C…”
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The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings by Skrahina, Volha, Gaber, Hanaa, Vollstedt, Eva‐Juliane, Förster, Toni M., Usnich, Tatiana, Curado, Filipa, Brüggemann, Norbert, Paul, Jefri, Bogdanovic, Xenia, Zülbahar, Selen, Olmedillas, Maria, Skobalj, Snezana, Ameziane, Najim, Bauer, Peter, Csoti, Ilona, Koleva‐Alazeh, Natalia, Grittner, Ulrike, Westenberger, Ana, Kasten, Meike, Beetz, Christian, Klein, Christine, Rolfs, Arndt

“…ABSTRACT Background Genetic stratification of Parkinson's disease (PD) patients facilitates gene‐tailored research studies and clinical trials. The objective…”
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Candida albicans Hap43 Domains Are Required under Iron Starvation but Not Excess by Skrahina, Volha, Brock, Matthias, Hube, Bernhard, Brunke, Sascha

“…Iron availability is a central factor in infections, since iron is a critical micronutrient for all living organisms. The host employs both iron limitation and…”
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Biphasic zinc compartmentalisation in a human fungal pathogen by Crawford, Aaron C, Lehtovirta-Morley, Laura E, Alamir, Omran, Niemiec, Maria J, Alawfi, Bader, Alsarraf, Mohammad, Skrahina, Volha, Costa, Anna C B P, Anderson, Andrew, Yellagunda, Sujan, Ballou, Elizabeth R, Hube, Bernhard, Urban, Constantin F, Wilson, Duncan

“…Nutritional immunity describes the host-driven manipulation of essential micronutrients, including iron, zinc and manganese. To withstand nutritional immunity…”
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Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease by Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Skrahina, Volha, Zimran, Ari, Revel-Vilk, Shoshana

“…Glucosylsphingosine (lyso-Gb1), the deacylated form of glucocerebroside, was shown to be the most specific and sensitive biomarker for diagnosing Gaucher…”
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Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing by Kumar, Abhishek, Skrahina, Volha, Atta, Joshua, Boettcher, Veronika, Hanig, Nicola, Rolfs, Arndt, Oprea, Gabriela, Ameziane, Najim

“…Biological material from the oral cavity is an excellent source of samples for genetic diagnostics. This is because collection is quick, easy-to-access, and…”
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GBA1 -Associated Parkinson's Disease Is a Distinct Entity by Skrahin, Aliaksandr, Horowitz, Mia, Istaiti, Majdolen, Skrahina, Volha, Lukas, Jan, Yahalom, Gilad, Cohen, Mikhal E, Revel-Vilk, Shoshana, Goker-Alpan, Ozlem, Becker-Cohen, Michal, Hassin-Baer, Sharon, Svenningsson, Per, Rolfs, Arndt, Zimran, Ari

“…-associated Parkinson's disease ( -PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the…”
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HAE patient self-sampling for biomarker establishment by Förster, Toni M, Magerl, Markus, Maurer, Marcus, Zülbahar, Selen, Zielke, Susanne, Inhaber, Neil, Crocetta, Donatello, Rolfs, Arndt, Skrahina, Volha

“…Abstract Background Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it…”
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Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology by Skrahina, Volha, Grittner, Ulrike, Beetz, Christian, Skripuletz, Thomas, Juenemann, Martin, Krämer, Heidrun H., Hahn, Katrin, Rieth, Andreas, Schaechinger, Volker, Patten, Monica, Tanislav, Christian, Achenbach, Stephan, Assmus, Birgit, Knebel, Fabian, Gingele, Stefan, Skrahin, Aliaksandr, Hartkamp, Jörg, Förster, Toni M., Roesner, Sabine, Pereira, Catarina, Rolfs, Arndt

“…Hereditary Transthyretin-Related Amyloidosis, a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene, is…”
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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility by Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt

“…We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to establish the genetic diagnosis, and to asses diagnostic yield and clinical…”
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Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency by Jasinge, Eresha, Fernando, Mihika, Indika, Neluwa-Liyanage Ruwan, Ratnayake, Pyara Dilani, Gamaathige, Nalin, Ratnaranjith, Ratnanathan, Schroeder, Sabine, Jones, Patricia, Volha, Skrahina, Jayasena, Subhashinie, Gunaratna, Anusha Varuni, Bandara Ekanayake, Asitha Niroshana, Rolfs, Arndt

“…Pyruvate carboxylase, a mitochondrial enzyme, catalyses the conversion of glycolytic end-product pyruvate to tricarboxylic acid cycle intermediate,…”
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Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report by Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Lentze, Michael J., Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt

“…Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combination of I1234V and 1677delTA variants with classic CF…”
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Rapid Large-Scale COVID-19 Testing during Shortages by Beetz, Christian, Skrahina, Volha, Förster, Toni M., Gaber, Hanaa, Paul, Jefri J., Curado, Filipa, Rolfs, Arndt, Bauer, Peter, Schäfer, Stephan, Weckesser, Volkmar, Lieu, Vivi, Radefeldt, Mandy, Pöppel, Claudia, Krake, Susann, Kandaswamy, Krishna K., Bruesehafer, Katja, Vogel, Florian

“…The Coronavirus disease 2019 (COVID-19) pandemic caused by the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) has resulted in economic and social…”
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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study by Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

“…Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the gene, encoding glucocerebrosidase. Deficiency of this…”
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LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort by Usnich, Tatiana, Vollstedt, Eva-Juliane, Schell, Nathalie, Skrahina, Volha, Bogdanovic, Xenia, Gaber, Hanaa, Förster, Toni M., Heuer, Andreas, Koleva-Alazeh, Natalia, Csoti, Ilona, Basak, Ayse Nazli, Ertan, Sibel, Genc, Gencer, Bauer, Peter, Lohmann, Katja, Grünewald, Anne, Schymanski, Emma L., Trinh, Joanne, Schaake, Susen, Berg, Daniela, Gruber, Doreen, Isaacson, Stuart H., Kühn, Andrea A., Mollenhauer, Brit, Pedrosa, David J., Reetz, Kathrin, Sammler, Esther M., Valente, Enza Maria, Valzania, Franco, Volkmann, Jens, Zittel, Simone, Brüggemann, Norbert, Kasten, Meike, Rolfs, Arndt, Klein, Christine

“…Background: Pathogenic variants in the Leucine-rich repeat kinase 2 ( LRRK2) gene are the most common known monogenic cause of Parkinson's disease (PD). LRRK2…”
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Perfiles clínicos, bioquímicos y moleculares de tres neonatos de Sri Lanka con déficit de piruvato carboxilasa by Jasinge, Eresha, Fernando, Mihika, Indika, Neluwa-Liyanage Ruwan, Ratnayake, Pyara Dilani, Gamaathige, Nalin, Ratnaranjith, Ratnanathan, Schroeder, Sabine, Jones, Patricia, Volha, Skrahina, Jayasena, Subhashinie, Gunaratna, Anusha Varuni, Ekanayake, Asitha Niroshana Bandara, Rolfs, Arndt

“…Resumen Objetivos La piruvato carboxilasa (PC), una enzima mitocondrial, cataliza la conversión de piruvato, producto final de la glucólisis, en oxaloacetato,…”
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Metals in fungal virulence by Gerwien, Franziska, Skrahina, Volha, Kasper, Lydia, Hube, Bernhard, Brunke, Sascha

“…Abstract Metals are essential for life, and they play a central role in the struggle between infecting microbes and their hosts. In fact, an important aspect…”
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Two-tier screening approach for the identification of hereditary angioedema type 1 & 2 patients by Cozma, Claudia, Iurascu, Marius I., Skrahina, Volha, Beetz, Christian, Rolfs, Arndt

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Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study by Curado, Filipa, Grittner, Ulrike, Skrahina, Volha, Malik, Ahmed, Beetz, Christian, Dinur, Tama, Anjum, Nadeem, Krioule, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact by Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter

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