Search Results - "Della Marina, A"

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency by Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita

“…Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover…”
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Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS by Chen, S., A, Bertolini, Koukou, G., Wendel, E.M., Thiels, C., Baumann, M., Lechner, C., Blaschek, A., Della Marina, A., Classen, G., Stüve, B., Kauffmann, B., Kapanci, T., Mayer, B., Otto, M., Rostásy, K.

“…Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the CNS. An intrathecal IgM synthesis is associated with a more rapid…”
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Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I–III by Koelbel, H, Hauffa, B, Boukidis, A, Lutz, S, Della-Marina, A, Schara, U

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DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities by Kölbel, H, Kuechler, A, Strom, T.M, Lüdecke, H.-J, Möller-Hartmann, C, Della-Marina, A, Wieczoreck, D, Schara, U

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Natural course of cerebral cavernous malformations in children: a five-year follow-up study by Santos, A., Rauschenbach, L., Dinger, T.F., Saban, D.S., Chen, B., Herten, A., Li, Y., Tippelt, S.T., Della Marina, A., Dohna-Schwake, C., Jabbarli, R.J., Wrede, K.H., Sure, U., Dammann, P.

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OP42 – 2499: Juvenile myasthenia gravis: clinical course and outcome in 21 patients from a single neuromuscular centre in Germany by Della Marina, A, Trippe, H, Lutz, S, Kaiser, O, Kizina, K, Rückert, J.C, Schara, U

“…Objective Myasthenia gravis is a rare autoimmune disorder of neuromuscular transmission caused by production of specific antibodies against the structures of…”
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G.P.71 Myasthenia gravis in young children and adolescents: Clinical symptoms and treatment options by Della Marina, A, Trippe, H, Lutz, S, Shamdeen, G.M, Schara, U

“…Abstract Myasthenia gravis (MG) is an autoimmune disorder caused by production of antibodies against the postsynaptic membrane of the neuromuscular junction…”
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P294 A comprehensive study of the inflammatory signature in sarcoglycanopathies by Kölbel, H., Preuße, C., Della-Marina, A., Schara-Schmidt, U., Goebel, H., Roos, A., Stenzel, W.

“…Inflammatory, de- and regenerative features in sarcoglycanopathies (LGMD R3-6), one of the most prevailing types of LGMDs worldwide, are characteristic…”
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169P Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy by Roos, A., Schmitt, L., Hansmann, C., Hezel, S., Salmanian, S., Hentschel, A., Meyer, N., Della Marina, A., Kölbel, H., Kleinschnitz, C., Schara-Schmidt, U., Leo, M., Hagenacker, T.

“…Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (SMN1) gene (localized…”
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175P Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric 5q-associated spinal muscular atrophy patients by Dobelmann, V., Roos, A., Hentschel, A., Della Marina, A., Leo, M., Schmitt, L., Maggi, L., Schara-Schmidt, U., Hagenacker, T., Ruck, T., Koelbel, H.

“…Spinal muscular atrophy (SMA) ranks as the second most prevalent neurodegenerative condition in childhood, characterized by a deficiency in the survival of…”
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172P FUS protein expression in the myopathology of 5q-associated spinal muscular atrophy type 3 by Kölbel, H., Dobelman, V., van Haute, L., Lancene, E., Kollipara, L., Della Marina, A., Horvath, R., Schara-Schmidt, U., Ruck, T., Schoser, B., Evangelista, T., Roos, A.

“…Spinal muscular atrophy (SMA) is a progressive, recessive neuromuscular disease characterized by significant reduction of SMN protein. This causes degeneration…”
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SMA CLINICAL DATA: EP.250 Description of cardiac involvement in 5q SMA pediatric patients by van Otterdijk, S., Kölbel, H., Schönecker, A., Modler, L., Marina, A. Della, Neudorf, U., Schara, U.

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SMA CLINICAL DATA by van Otterdijk, S., Kölbel, H., Schönecker, A., Modler, L., Marina, A. Della, Neudorf, U., Schara, U.

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Ataluren treatment of patients with nonsense mutation dystrophinopathy by Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P., Connolly, Anne M., Day, John W., Flanigan, Kevin M., Goemans, Nathalie, Jones, Kristi J., Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B., Russman, Barry, Ryan, Monique M., Tulinius, Mar, Voit, Thomas, Moore, Steven A., Lee Sweeney, H., Abresch, Richard T., Coleman, Kim L., Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M., Henricson, Erik, Barth, Jay, Elfring, Gary L., Reha, Allen, Spiegel, Robert J., O'donnell, Michael W., Peltz, Stuart W., Mcdonald, Craig M.

“…ABSTRACT Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable…”
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P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells by Hentschel, A., Della Marina, A., Köbel, H., Gangfuss, A., Dohrn, M., Weis, J., Dobelmann, V., Krause, K., Ruck, T., Vorgerd, M., Schara-Schmidt, U., Roos, A.

“…Biochemical, histological, and ultra-structural studies are standard procedures in the diagnostic work-up of muscle and nerve biopsies derived from…”
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511P Blood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome by Della Marina, A., Koutsoulidou, A., Natera de Benito, D., Tykocinski, L., Tomazou, M., Georgiou, K., Kölbel, H., Nascimento, A., Ortez, C., Lochmüller, H., Phylactou, L., Ruck, T., Abicht, A., Schara-Schmidt, U., Kale, D., Hentschel, A., Roos, A.

“…Pathogenic variants in CHRNE encoding the epsilon subunit of acetyl choline receptor (AChR) result in impaired neuromuscular transmission and congenital…”
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HEREDITARY NEUROPATHIES & ALS: P.112 Description of muscular involvement in a NEFL-caused neurological disease by Kölbel, H., Henschel, A., Marina, A. Della, Abicht, A., Sickmann, A., Weis, J., Schara, U., Roos, A.

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HEREDITARY NEUROPATHIES & ALS by Kölbel, H., Henschel, A., Marina, A. Della, Abicht, A., Sickmann, A., Weis, J., Schara, U., Roos, A.

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235P Cross sectional study of 187 patients with congenital myasthenia syndrome, describing the clinical phenotypes, genetic mutations, and single point standardised assessment scores by Ramdas, S., Ramjattan, H., Hennehan, L., Natera De Benito, D., Nascimiento, A., Della Marina, A., Schara-Schmidt, U., Munot, P., Simmons, E., Maggi, L., Gallone, A., Nadaj Pakleza, A., Chanson, J., Marini-Bettolo, C., Moat, D., Paz Guerrero-Molina, M., Dominguez-González, C., Jungbluth, H., Sheehan, J., Palace, J.

“…Congenital myasthenic syndromes (CMS) are inherited disorders of defective neuromuscular transmission. The clinical phenotype and treatment response vary…”
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METABOLIC MYOPATHIES II by Kölbel, H., Marina, A. Della, Kaiser, O., Stehling, F., Weis, J., Abicht, A., Schara, U.

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