Search Results - "Salimi Dafsari, Hormos"

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification by Becker Lena-Luise, Salimi, Dafsari Hormos, Schallner Jens, Abdin Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok Levinus, Rodan Lance, Krapels Ingrid, Spranger, Stephanie, Weschke Bernhard, Johnson, Katherine, Straub Volker, Kaindl, Angela M, Di Donato Nataliya, von der Hagen Maja, Cirak Sebahattin

“…Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such…”
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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia by Dafsari, Hormos Salimi, Sprute, Rosanne, Wunderlich, Gilbert, Daimagüler, Hülya-Sevcan, Karaca, Ezgi, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tülay, Kloss, Manja, Horn, Annette, Pauls, Amande, Nürnberg, Peter, Altmüller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne, Cirak, Sebahattin

“…Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation…”
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Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders by Baum, Emily, Huang, Wenming, Vincent-Delorme, Catherine, Brunelle, Perrine, Antebi, Adam, Dafsari, Hormos Salimi

“…Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene ( ) have been associated with Verheij syndrome, which has the key features of coloboma,…”
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Genomic profiling in neuronal dyneinopathies and updated classifications by Dafsari, Hormos Salimi, Becker, Lena‐Luise, von der Hagen, Maja, Cirak, Sebahattin

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Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations by Sprute, Rosanne, Jergas, Hannah, Ölmez, Akgün, Alawbathani, Salem, Karasoy, Hatice, Dafsari, Hormos Salimi, Becker, Kerstin, Daimagüler, Hülya‐Sevcan, Nürnberg, Peter, Muntoni, Francesco, Topaloglu, Haluk, Uyanik, Gökhan, Cirak, Sebahattin

“…Autosomal‐recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood‐onset progressive…”
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Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants by Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz‐Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez‐Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R., Vari, Stella, Roende, Gitte, Bak, Mads, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M., Hammer, Trine Bjørg, Møller, Rikke S., Rabin, Rachel, Pappas, John, Zupanc, Mary L., Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormos, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta

“…Objective DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1‐related epilepsy has been…”
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Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy by Hentrich, Lea, Parnes, Mered, Lotze, Timothy Edward, Coorg, Rohini, de Koning, Tom J., Nguyen, Kha M., Yip, Calvin K., Jungbluth, Heinz, Koy, Anne, Dafsari, Hormos Salimi

“…Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration…”
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Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder by Almannai, Mohammed, Marafi, Dana, Zaki, Maha S., Maroofian, Reza, Efthymiou, Stephanie, Saadi, Nebal Waill, Filimban, Bilal, Dafsari, Hormos Salimi, Rahman, Fatima, Maqbool, Shazia, Faqeih, Eissa, Al Mutairi, Fuad, Alsharhan, Hind, Abdelaty, Omar, Bin‐Hasan, Saadoun, Duan, Ruizhi, Noureldeen, Mahmoud M., Alqattan, Alaa, Houlden, Henry, Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.

“…PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a…”
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Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review by Bayram, Nurettin, Kaçar Bayram, Ayşe, Daimagüler, Hülya-Sevcan, Dafsari, Hormos Salimi, Bamborschke, Daniel, Uyanik, Gökhan, Erdogan, Murat, Özsaygılı, Cemal, Pangal, Emine, Yuvaci, İsa, Doğanay, Selim, Gümüş, Hakan, Per, Hüseyin, Jungbluth, Heinz, Çırak, Sebahattin

“…Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’…”
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Atopy and Elevation of IgE, IgG3, and IgG4 May Be Risk Factors for Post COVID-19 Condition in Children and Adolescents by Körner, Robert Walter, Bansemir, Ole Yannick, Franke, Rosa, Sturm, Julius, Dafsari, Hormos Salimi

“…SARS-CoV-2 infection causes transient cardiorespiratory and neurological disorders, and severe acute illness is rare among children. Post COVID-19 condition…”
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Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy by Dafsari, Hormos Salimi, Kocaturk, Nur Mehpare, Daimagüler, Hülya-Sevcan, Brunn, Anna, Dötsch, Jörg, Weis, Joachim, Deckert, Martina, Cirak, Sebahattin

“…Congenital myopathies (CM) form a genetically heterogeneous group of disorders characterized by perinatal muscle weakness. Here, we report an 11-year old male…”
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Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia by Dafsari, Hormos Salimi, Sprute, Rosanne, Wunderlich, Gilbert, Daimagüler, Hülya-Sevcan, Karaca, Ezgi, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tülay, Kloss, Manja, Horn, Annette, Pauls, Amande, Nürnberg, Peter, Altmüller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne, Cirak, Sebahattin

“…Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation…”
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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy by Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Souaid, Mirna, Sabbagh, Sandra, Najarzadeh Torbati, Paria, Khan, Suliman, Roze, Emmanuel, Moreno‐De‐Luca, Andres, Bertoli‐Avella, Aida M., Houlden, Henry, Balla, Tamas, Maroofian, Reza

“…Objective Intracellular signaling networks rely on proper membrane organization to control an array of cellular processes such as metabolism, proliferation,…”
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Novel Genetic and Phenotypic Expansion in Ameliorated IPUF60/I-Related Disorders by Baum, Emily, Huang, Wenming, Vincent-Delorme, Catherine, Brunelle, Perrine, Antebi, Adam, Dafsari, Hormos Salimi

“…Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of…”
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An update on autophagy disorders by Dafsari, Hormos Salimi, Martinelli, Diego, Saffari, Afshin, Ebrahimi-Fakhari, Darius, Fanto, Manolis, Dionisi-Vici, Carlo, Jungbluth, Heinz

“…Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular…”
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Deficient body structural description contributes to apraxic end-position errors in imitation by Dafsari, Hormos Salimi, Dovern, Anna, Fink, Gereon R., Weiss, Peter H.

“…Apraxia is a common cognitive deficit after left hemisphere (LH) stroke. It has been suggested that a disturbed representation of the human body underlies…”
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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and vici syndrome patients by Deneubourg, Celine, Salimi Dafsari, Hormos, Lowe, Simon, Martinez-Cotrina, Aitana, Mazaud, David, Park, Seo Hyun, Vergani, Virginia, Almacellas Barbanoj, Amanda, Maroofian, Reza, Averdunk, Luisa, Ghayoor-Karimiani, Ehsan, Jayawant, Sandeep, Mignot, Cyril, Keren, Boris, Peters, Renate, Kamath, Arveen, Mattas, Lauren, Verma, Sumit, Silwal, Arpana, Distelmaier, Felix, Houlden, Henry, Lignani, Gabriele, Antebi, Adam, Jepson, James, Jungbluth, Heinz, Fanto, Manolis

“…Epilepsy is a common neurological condition that arises from dysfunctional neuronal circuit control due to either acquired or innate disorders. Autophagy is an…”
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The expanding clinical and genetic spectrum of DYNC1H1-related disorders by Möller, Birk, Becker, Lena-Luise, Saffari, Afshin, Afenjar, Alexandra, Coci, Emanuele G, Williamson, Rachel, Ward-Melver, Catherine, Gibaud, Marc, Sedláčková, Lucie, Laššuthová, Petra, Libá, Zuzana, Vlčková, Markéta, William, Nancy, Klee, Eric W, Gavrilova, Ralitza H, Lévy, Jonathan, Capri, Yline, Scavina, Mena, Körner, Robert Walter, Valuvullah, Zaheer, Weiß, Claudia, Möller, Greta Marit, Thiel, Moritz, Sinnema, Margje, Kamsteeg, Erik-Jan, Donkervoort, Sandra, Duboc, Veronique, Zaafrane-Khachnaoui, Khaoula, Elkhateeb, Nour, Selim, Laila, Margot, Henri, Marin, Victor, Beneteau, Claire, Isidor, Bertrand, Cogne, Benjamin, Keren, Boris, Küsters, Benno, Beggs, Alan H, Genetti, Casie A, Nicolai, Joost, Dötsch, Jörg, Koy, Anne, Bönnemann, Carsten G, von der Hagen, Maja, von Kleist-Retzow, Jürgen-Christoph, Voermans, Nicol, Jungbluth, Heinz, Dafsari, Hormos Salimi

“…Intracellular trafficking involves an intricate machinery of motor complexes including the dynein complex to shuttle cargo for autophagolysosomal degradation…”
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Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia by Nakamura, Yuji, Shimada, Issei S, Maroofian, Reza, Falabella, Micol, Zaki, Maha S, Fujimoto, Masanori, Sato, Emi, Takase, Hiroshi, Aoki, Shiho, Miyauchi, Akihiko, Koshimizu, Eriko, Miyatake, Satoko, Arioka, Yuko, Honda, Mizuki, Higashi, Takayoshi, Miya, Fuyuki, Okubo, Yukimune, Ogawa, Isamu, Scardamaglia, Annarita, Miryounesi, Mohammad, Alijanpour, Sahar, Ahmadabadi, Farzad, Herkenrath, Peter, Dafsari, Hormos Salimi, Velmans, Clara, Al Balwi, Mohammed, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Jeanne, Médéric, Civit, Antoine, Abdel-Hamid, Mohamed S, Naderi, Hamed, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Carroll, Christopher J, Ghayoor Karimiani, Ehsan, Khailany, Rozhgar A, Abdulqadir, Talib Adil, Ozaslan, Mehmet, Bauer, Peter, Zifarelli, Giovanni, Seifi, Tahere, Zamani, Mina, Al Alam, Chadi, Alvi, Javeria Raza, Sultan, Tipu, Efthymiou, Stephanie, Pope, Simon A S, Haginoya, Kazuhiro, Matsunaga, Tamihide, Osaka, Hitoshi, Matsumoto, Naomichi, Ozaki, Norio, Ohkawa, Yasuyuki, Oki, Shinya, Tsunoda, Tatsuhiko, Pitceathly, Robert D S, Taketomi, Yoshitaka, Houlden, Henry, Murakami, Makoto, Kato, Yoichi, Saitoh, Shinji

“…Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological…”
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Novel Genetic and Phenotypic Expansion in IGOSR2/I-Related Progressive Myoclonus Epilepsy by Hentrich, Lea, Parnes, Mered, Lotze, Timothy Edward, Coorg, Rohini, de Koning, Tom J, Nguyen, Kha M, Yip, Calvin K, Jungbluth, Heinz, Koy, Anne, Dafsari, Hormos Salimi

“…Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration…”
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