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103 results on '"Marina, A. Della"'

1. Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis

Author

Schroeter, Christina B., Nelke, Christopher, Stascheit, Frauke, Huntemann, Niklas, Preusse, Corinna, Dobelmann, Vera, Theissen, Lukas, Pawlitzki, Marc, Räuber, Saskia, Willison, Alice, Vogelsang, Anna, Marina, Adela Della, Hartung, Hans-Peter, Melzer, Nico, Konen, Felix F., Skripuletz, Thomas, Hentschel, Andreas, König, Simone, Schweizer, Michaela, Stühler, Kai, Poschmann, Gereon, Roos, Andreas, Stenzel, Werner, Meisel, Andreas, Meuth, Sven G., and Ruck, Tobias

Published
2024
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4. Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study

Author

De Giorgis, Valentina, primary, Bhatia, Kailash P., additional, Boespflug‐Tanguy, Odile, additional, Gras, Domitille, additional, Marina, Adela Della, additional, Desurkar, Archana, additional, Toledo, Manuel, additional, Miller, Ian, additional, Rotstein, Michael, additional, Schneider, Susanne A., additional, Tarquinio, Daniel C., additional, Weber, Yvonne, additional, Brandabur, Melanie, additional, Mayhew, Jill, additional, Koutsoukos, Tony, additional, and De Vivo, Darryl C., additional

Published
2024
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5. Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers

Author

Athamneh, Mohammed, primary, Daya, Nassam, additional, Hentschel, Andreas, additional, Gangfuss, Andrea, additional, Ruck, Tobias, additional, Marina, Adela Della, additional, Schara‐Schmidt, Ulrike, additional, Sickmann, Albert, additional, Güttsches, Anne‐Katrin, additional, Deschauer, Marcus, additional, Preusse, Corinna, additional, Vorgerd, Matthias, additional, and Roos, Andreas, additional

Published
2024
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6. Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Author

Chiu, Celine, Küchler, Alma, Depienne, Christel, Preuße, Corinna, Marina, Adela Della, Reis, Andre, Kaiser, Frank J., Nolte, Kay, Hentschel, Andreas, Schara-Schmidt, Ulrike, Kölbel, Heike, and Roos, Andreas

Subjects
SKELETAL muscle, TRANSCRIPTION factors, FACIAL abnormalities, SHORT stature, SYNDROMES in children, HYPERVENTILATION, CYANOSIS
Abstract

Background: TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental retardation, certain features of facial dysmorphism and, in many cases, with abnormalities in respiratory rhythm (episodes of paroxysmal tachypnea and hyperventilation, followed by apnea and cyanosis). Frequently, patients also develop epilepsy, microcephaly, and postnatal short stature. Although TCF4 is expressed in skeletal muscle and TCF4 seems to play a role in myogenesis as demonstrated in mice, potential myopathological findings taking place upon the presence of dominant TCF4 variants are thus far not described in human skeletal muscle. Method: To address the pathological effect of a novel deletion affecting exons 15 and 16 of TCF4 on skeletal muscle, histological and immunofluorescence studies were carried out on a quadriceps biopsy in addition to targeted transcript studies and global proteomic profiling. Results: We report on muscle biopsy findings from a Pitt-Hopkins patient with a novel heterozygous deletion spanning exon 15 and 16 presenting with neuromuscular symptoms. Microscopic characterization of the muscle biopsy revealed moderate fiber type I predominance, imbalance in the proportion of fibroblasts co-expressing Vimentin and CD90, and indicate activation of the complement cascade in TCF4-mutant muscle. Protein dysregulations were unraveled by proteomic profiling. Transcript studies confirmed a mitochondrial vulnerability in muscle and confirmed reduced TCF4 expression. Conclusion: Our combined findings, for the first time, unveil myopathological changes as phenotypical association of Pitt-Hopkins syndrome and thus expand the current clinical knowledge of the disease as well as support data obtained on skeletal muscle of a mouse model. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Association of bilaterally suppressed EEG amplitudes and outcomes in critically ill children.

Author

Paul, Luisa, Greve, Sandra, Hegemann, Johanna, Gienger, Sonja, Löffelhardt, Verena Tamara, Marina, Adela Della, Felderhoff-Müser, Ursula, Dohna-Schwake, Christian, and Bruns, Nora

Subjects
CRITICALLY ill children, PEDIATRIC intensive care, ELECTROENCEPHALOGRAPHY, INTENSIVE care units, HOSPITAL admission & discharge
Abstract

Background and objectives: Amplitude-integrated EEG (aEEG) is used to assess electrocortical activity in pediatric intensive care if (continuous) full channel EEG is unavailable but evidence regarding the meaning of suppressed aEEG amplitudes in children remains limited. This retrospective cohort study investigated the association of suppressed aEEG amplitudes in critically ill children with death or decline of neurological functioning at hospital discharge. Methods: Two hundred and thirty-five EEGs derived from individual patients <18 years in the pediatric intensive care unit at the University Hospital Essen (Germany) between 04/2014 and 07/2021, were converted into aEEGs and amplitudes analyzed with respect to age-specific percentiles. Crude and adjusted odds ratios (OR) for death, and functional decline at hospital discharge in patients with bilateral suppression of the upper or lower amplitude below the 10th percentile were calculated. Sensitivity, specificity, positive (PPV) and negative predictive values (NPV) were assessed. Results: The median time from neurological insult to EEG recording was 2 days. PICU admission occurred due to neurological reasons in 43% and patients had high overall disease severity. Thirty-three (14%) patients died and 68 (29%) had a functional decline. Amplitude suppression was observed in 48% (upper amplitude) and 57% (lower amplitude), with unilateral suppression less frequent than bilateral suppression. Multivariable regression analyses yielded crude ORs between 4.61 and 14.29 and adjusted ORs between 2.55 and 8.87 for death and functional decline if upper or lower amplitudes were bilaterally suppressed. NPVs for bilaterally non-suppressed amplitudes were above 95% for death and above 83% for pediatric cerebral performance category Scale (PCPC) decline, whereas PPVs ranged between 22 and 32% for death and 49-52% for PCPC decline. Discussion: This study found a high prevalence of suppressed aEEG amplitudes in critically ill children. Bilaterally normal amplitudes predicted good outcomes, whereas bilateral suppression was associated with increased odds for death and functional decline. aEEG assessment may serve as an element for risk stratification of PICU patients if conventional EEG is unavailable with excellent negative predictive abilities but requires additional information to identify patients at risk for poor outcomes. [ABSTRACT FROM AUTHOR]

Published
2024
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9. A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy

Author

Gangfuß, Andrea, primary, Rating, Philipp, additional, Ferreira, Tomas, additional, Hentschel, Andreas, additional, Marina, Adela Della, additional, Kölbel, Heike, additional, Sickmann, Albert, additional, Abicht, Angela, additional, Kraft, Florian, additional, Ruck, Tobias, additional, Böhm, Johann, additional, Schänzer, Anne, additional, Schara-Schmidt, Ulrike, additional, Neuhann, Teresa M., additional, Horvath, Rita, additional, and Roos, Andreas, additional

Published
2024
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10. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

Author

Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B., Baumgartner, Matthias, Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, and Zschocke, Johannes, Series editor

Published
2016
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11. A Homozygous NDUFS6Variant Associated with Neuropathy and Optic Atrophy

Author

Gangfuß, Andrea, Rating, Philipp, Ferreira, Tomas, Hentschel, Andreas, Marina, Adela Della, Kölbel, Heike, Sickmann, Albert, Abicht, Angela, Kraft, Florian, Ruck, Tobias, Böhm, Johann, Schänzer, Anne, Schara-Schmidt, Ulrike, Neuhann, Teresa M., Horvath, Rita, and Roos, Andreas

Abstract

Background: The NADH dehydrogenase [ubiquinone] iron-sulfur protein 6 (NDUFS6) gene encodes for an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Bi-allelic NDUFS6variants have been linked with a severe disorder mostly reported as a lethal infantile mitochondrial disease (LMID) or Leigh syndrome (LS).Objective: Here, we identified a homozygous variant (c.309?+?5?G?>?A) in NDUFS6in one male patient with axonal neuropathy accompanied by loss of small fibers in skin biopsy and further complicated by optic atrophy and borderline intellectual disability.Methods: To address the pathogenicity of the variant, biochemical studies (mtDNA copy number quantification, ELISA, Proteomic profiling) of patient-derived leukocytes were performed.Results: The analyses revealed loss of NDUFS6protein associated with a decrease of three further mitochondrial NADH dehydrogenase subunit/assembly proteins (NDUFA12, NDUFS4 and NDUFV1). Mitochondrial copy number is not altered in leukocytes and the mitochondrial biomarker GDF15 is not significantly changed in serum.Conclusions: Hence, our combined clinical and biochemical data strengthen the concept of NDUFS6being causative for a very rare form of axonal neuropathy associated with optic atrophy and borderline intellectual disability, and thus expand (i) the molecular genetic landscape of neuropathies and (ii) the clinical spectrum of NDUFS6-associated phenotypes.

Published
2024
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12. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Author

Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., Wortmann, S.B., Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., and Wortmann, S.B.

Abstract

01 juni 2023, Item does not contain fulltext, PURPOSE: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. METHODS: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data. RESULTS: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. CONCLUSION: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival.

Published
2023

13. The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

Author

Allen, Nicholas M, O'Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Bergh, Peter Van den, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Benito, Daniel Natera-de, and Cheng, Man Hin Mark

Subjects
CHOLINERGIC receptors, MYASTHENIA gravis, ELECTRIC units, NEUROMUSCULAR diseases, ABORTION, FETAL presentation
Abstract

In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). Fetal AChR antibodies have also been implicated in apparently rare, milder myopathic presentations termed fetal acetylcholine receptor inactivation syndrome (FARIS). The full spectrum associated with fAChR antibodies is still poorly understood. Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreported, resulting in failure to implement effective preventive strategies. Here we report clinical and immunological data from a multicentre cohort (n = 46 cases) associated with maternal fAChR antibodies, including 29 novel and 17 previously reported with novel follow-up data. Remarkably, in 50% of mothers there was no previously established myasthenia gravis (MG) diagnosis. All mothers (n = 30) had AChR antibodies and, when tested, binding to fAChR was often much greater than that to the adult AChR isoform. Offspring death occurred in 11/46 (23.9%) cases, mainly antenatally due to termination of pregnancy prompted by severe AMC (7/46, 15.2%), or during early infancy, mainly from respiratory failure (4/46, 8.7%). Weakness, contractures, bulbar and respiratory involvement were prominent early in life, but improved gradually over time. Facial (25/34; 73.5%) and variable peripheral weakness (14/32; 43.8%), velopharyngeal insufficiency (18/24; 75%) and feeding difficulties (16/36; 44.4%) were the most common sequelae in long-term survivors. Other unexpected features included hearing loss (12/32; 37.5%), diaphragmatic paresis (5/35; 14.3%), CNS involvement (7/40; 17.5%) and pyloric stenosis (3/37; 8.1%). Oral salbutamol used empirically in 16/37 (43.2%) offspring resulted in symptom improvement in 13/16 (81.3%). Combining our series with all previously published cases, we identified 21/85 mothers treated with variable combinations of immunotherapies (corticosteroids/intravenous immunoglobulin/plasmapheresis) during pregnancy either for maternal MG symptom control (12/21 cases) or for fetal protection (9/21 cases). Compared to untreated pregnancies (64/85), maternal treatment resulted in a significant reduction in offspring deaths (P < 0.05) and other complications, with treatment approaches involving intravenous immunoglobulin/ plasmapheresis administered early in pregnancy most effective. We conclude that presentations due to in utero exposure to maternal (fetal) AChR antibodies are more common than currently recognized and may mimic a wide range of neuromuscular disorders. Considering the wide clinical spectrum and likely diversity of underlying mechanisms, we propose 'fetal acetylcholine receptor antibody-related disorders' (FARAD) as the most accurate term for these presentations. FARAD is vitally important to recognize, to institute appropriate management strategies for affected offspring and to improve outcomes in future pregnancies. Oral salbutamol is a symptomatic treatment option in survivors. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.

Author

Roos, Andreas, Ven, Peter F M van der, Alrohaif, Hadil, Kölbel, Heike, Heil, Lorena, Marina, Adela Della, Weis, Joachim, Aßent, Marvin, Beck-Wödl, Stefanie, Barresi, Rita, Töpf, Ana, O'Connor, Kaela, Sickmann, Albert, Kohlschmidt, Nicolai, Gizouli, Magdeldin El, Meyer, Nancy, Daya, Nassam, Grande, Valentina, Bois, Karin, and Kaiser, Frank J

Subjects
NEMALINE myopathy, MUSCLE dysmorphia, MUSCLE weakness, MUSCLE diseases, AUTOPHAGY, NEUROLOGICAL disorders
Abstract

Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurological disorders (FLNA) and muscle diseases characterized by myofibrillar perturbations (FLNC), but human diseases associated with FILIP1 variants have not yet been described. Here, we report on five patients from four unrelated consanguineous families with homozygous FILIP1 variants (two nonsense and two missense). Functional studies indicated altered stability of the FILIP1 protein carrying the p.[Pro1133Leu] variant. Patients exhibit a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features. Electron and immunofluorescence microscopy on the muscle biopsy derived from the patient harbouring the homozygous p.[Pro1133Leu] missense variant revealed core-like zones of myofibrillar disintegration, autophagic vacuoles and accumulation of FLNc. Proteomic studies on the fibroblasts derived from the same patient showed dysregulation of a variety of proteins including FLNc and alpha-B-crystallin, a finding (confirmed by immunofluorescence) which is in line with the manifestation of symptoms associated with the syndromic phenotype of FILIP1opathy. The combined findings of this study show that the loss of functional FILIP1 leads to a recessive disorder characterized by neurological and muscular manifestations as well as dysmorphic features accompanied by perturbed proteostasis and myopathology. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Outcome and Brain Volume Changes over Time in Children with Autoimmune Encephalitis and MOG Antibodies.

Author

Bertolini, A., Bartels, F., Wegener-Panzer, A., Cleaveland, R., Ullmann, F., Olive, G., Armangue, T., Häusler, M., Wendel, E. M., Knierim, E., Reiter-Fink, E., Breu, M., Marina, A. Della, Baumann, B. Tro, Reindl, M., Finke, C., and Rostasy, K.

Subjects
ENCEPHALITIS, IMMUNOGLOBULINS, GRAY matter (Nerve tissue), EPILEPSY, VOLUME (Cubic content), BRAIN diseases
Abstract

This article, published in the journal Neuropediatrics, examines the outcome and brain volume changes over time in children with MOG-encephalitis (MOG-E), a rare clinical phenotype of MOGAD. The study included 21 children with MOG-E, who presented with symptoms such as encephalopathy, headache, focal neurological signs, seizures, or CSF pleocytosis. The results showed that the majority of children had a good clinical outcome, with resolution of MRI changes and decreasing MOG antibodies over time. However, brain volumetry measurements indicated a decrease in whole brain volume, particularly in gray matter, after onset. [Extracted from the article]

Published
2023
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16. Acute Disseminated Encephalomyelitis without MOG Antibodies: Clinical Course and Final Diagnosis.

Author

Panagi, M., Wegener-Panzer, A., Cleaveland, R., Blaschek, A., Brantner-Inthaler, S., Baumann, M., Conrad, C., Marina, A. Della, Finsterwalder, J., Fucik, P., Geis, T., Hofstetter, P., Karenfort, M., Kluger, G., Leiz, S., Merkenschlager, A., Munk, I., Nosadini, M., Salandin, M., and Sartori, S.

Subjects
POSTVACCINAL encephalitis, IMMUNOGLOBULINS, DIAGNOSIS, CENTRAL nervous system, MULTIPLE sclerosis
Abstract

This article, published in the journal Neuropediatrics, explores the clinical course and final diagnosis of Acute Disseminated Encephalomyelitis (ADEM) without MOG antibodies. ADEM is a rare inflammatory disorder of the central nervous system (CNS), and MOG antibodies are found in 50% of children with ADEM. The study collected data from 40 children with MOG-negative ADEM and found that in 72.5% of cases, the diagnosis remained ADEM at the last follow-up. However, in 27.5% of cases, the diagnosis was revised to conditions such as multiple sclerosis (MS), glioblastoma, CNS vasculitis, leukoencephalopathy, and autoimmune encephalitis. The study highlights the importance of considering alternative diagnoses in cases of MOG-negative ADEM. [Extracted from the article]

Published
2023
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17. IgM Synthesis and MRZ Reaction Are Not Associated with Factors Predicting a Poor Prognosis in Pediatric MS.

Author

Chen, S., Bertolini, A., Koukou, G., Classen, G., Baumann, M., Thiels, C., Wendel, E.-M., Marina, A. Della, Stüve, B., Blaschek, A., Kauffmann, B., and Rostásy, K.

Subjects
CEREBROSPINAL fluid examination, IMMUNOGLOBULIN M, PROGNOSIS, MAGNETIC resonance imaging, SPINAL cord, SYMPTOMS
Abstract

This article, published in the journal Neuropediatrics, examines the significance of intrathecal IgM synthesis and the MRZ reaction in pediatric multiple sclerosis (MS). The study included 75 children with MS and analyzed their clinical presentation, MR imaging, and cerebrospinal fluid analysis. The results showed that intrathecal IgM synthesis and a positive MRZ reaction were present in a significant portion of the children, but they were not associated with markers of disease progression such as the presence of spinal cord lesions, total lesion load, and relapse rate. This suggests that these features may not be predictive of a poor prognosis in pediatric MS. [Extracted from the article]

Published
2023
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18. Supplementary informations and figures from Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

Author

Diquigiovanni, Chiara, Rizzardi, Nicola, Kampmeier, Antje, Liparulo, Irene, Bianco, Francesca, De Nicolo, Bianca, Cataldi-Stagetti, Erica, Cuna, Elisabetta, Severi, Giulia, Seri, Marco, Bertrand, Miriam, Haack, Tobias B., Marina, Adela Della, Braun, Frederik, Fato, Romana, Kuechler, Alma, Bergamini, Christian, and Bonora, Elena

Abstract

Pathogenic variants in SPART cause Troyer syndrome, characterized by lower extremity spasticity and weakness, short stature and cognitive impairment, and a severe mitochondrial impairment. Herein, we report the identification of a role of Spartin in nuclear-encoded mitochondrial proteins. SPART biallelic missense variants were detected in a 5-year-old boy with short stature, developmental delay, muscle weakness with impaired walking distance. Patient-derived fibroblasts showed an altered mitochondrial network, decreased mitochondrial respiration and increased mitochondrial reactive oxygen species and altered Ca2+ versus control cells. We investigated the mitochondrial import of nuclear-encoded proteins in these fibroblasts and in another cell model carrying a SPART loss-of-function mutation. In both cell, models the mitochondrial import was impaired, leading to a significant decrease in different proteins, including two key enzymes involved in CoQ10 (CoQ) synthesis, COQ7 and COQ9, with a severe reduction in CoQ content, versus control cells. CoQ supplementation restored cellular ATP levels to the same extent shown by the re-expression of wild-type SPART, suggesting CoQ treatment as a promising therapeutic approach for patients carrying mutations in SPART.

Published
2023
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20. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Author

Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C., Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Baumgartner, Manuela, Cordts, Isabell, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Friese, Johannes, Günther, René, Hahn, Andreas, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jahnel, Jörg, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schwerin-Nagel, Annette, Reihle, Christof, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Trollmann, Regina, Weiler, Markus, Weiß, Claudia, Wiegand, Gert, Wilichowski, Ekkehard, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd, Ameshofer, Lisa, Andres, Barbara, Angelova-Toshkina, Daniela, Banholzer, Daniela, Bant, Christina, Baum, Petra, Baumann, Sandra, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bellut, Julia, Bevot, Andrea, Bischofberger, Jasmin, Bitzan, Lisa, Bjelica, Bogdan, Blankenburg, Markus, Böger, Sandra, Bonetti, Friederike, Bongartz, Anke, Brakemeier, Svenja, Bratka, Lisa, Braun, Nathalie, Braun, Sarah, Brauner, Brigitte, Bretschneider, Christa, Burgenmeister, Nadine, Burke, Bea, Cirak, Sebahattin, Dall, Andrea, de Vries, Heike, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dibrani, Zylfie, Diebold, Uta, Dondit, Lutz, Drebes, Jessica, Driemeyer, Joenna, Dukic, Vladimir, Eckenweiler, Matthias, Eminger, Mirjam, Fischer, Michal, Fischer, Cornelia, Freigang, Maren, Gaiser, Philippa, Gangfuß, Andrea, Geitmann, Stephanie, George, Annette, Gosk-Tomek, Magdalena, Grinzinger, Susanne, Gröning, Kristina, Groß, Martin, Güttsches, Anne-Katrin, Hagenmeyer, Anna, Hartmann, Hans, Haverkamp, Julia, Hiebeler, Miriam, Hoevel, Annegret, Hoffmann, Georg Friedrich, Holtkamp, Britta, Holzwarth, Dorothea, Homma, Annette, Horneff, Viola, Hörnig, Carolin, Hotter, Anna, Hubert, Andrea, Huppke, Peter, Jansen, Eva, Jung, Lisa, Kaiser, Nadja, Kappel, Stefan, Katharina, Bolte, Koch, Johannes, Kölke, Stefan, Korschinsky, Brigitte, Kostede, Franziska, Krause, Karsten, Küpper, Hanna, Lang, Annina, Lange, Irene, Langer, Thorsten, Lechner, Yvonne, Lehmann, Helmar, Leypold, Christine, Lingor, Paul, Lipka, Jaqueline, Löscher, Wolfgang, Luiking, Antje, Machetanz, Gerrit, Malm, Eva, Martakis, Kyriakos, Menzen, Bettina, Metelmann, Moritz, Meyer zu Hörste, Gerd, Montagnese, Federica, Mörtlbauer, Kathrin, Müller, Petra, Müller, Anne, Müller, Anja, Müschen, Lars, Neuwirth, Christoph, Niesert, Moritz, Pauschek, Josefine, Pernegger, Elke, Petri, Susanne, Pilshofer, Veronika, Plecko, Barbara, Pollok, Jürgen, Preisel, Martin, Pühringer, Manuel, Quinten, Anna Lisa, Raffler, Sabine, Ramadan, Barbara, Rappold, Mika, Rauscher, Christian, Reckmann, Kerstin, Reinhardt, Tabea, Röder, Melanie, Roland-Schäfer, Doris, Roth, Erdmute, Ruß, Lena, Saffari, Afshin, Schimmel, Mareike, Schlag, Melina, Schlotter-Weigel, Beate, Schneider, Joanna, Schöne-Bake, Jan-Christoph, Schorling, David, Schreiner, Isabella, Schüssler, Stephanie, Schwarzbach, Michaela, Schwippert, Michaela, Semmler, Luisa, Smuda, Karin, Sprenger-Svacina, Alina, Stadler, Theresa, Steffens, Paula, Steuernagel, Daniela, Stolte, Benjamin, Stoltenburg, Corinna, Tasch, Gehrke, Thimm, Andreas, Tiefenthaler, Elke, Topakian, Raffi, Türk, Matthias, van der Stam, Lieske, Vettori, Katia, Vollmann, Peter, Vorgerd, Matthias, Weiss, Deike, Wenninger, Stephan, Werring, Svea, Wessel, Maria, Weyen, Ute, Wider, Sabine, Wiebe, Nils Ole, Wiesenhofer, Anna, Wiethoff, Sarah, Wirner, Corinna, Wohnrade, Camilla, Wunderlich, Gilbert, Zeller, Daniel, Zemlin, Michael, and Zobel, Joachim

Subjects
Medizin, Pharmacology (medical), General Medicine, ddc:610, Genetics (clinical)
Abstract

Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. Methods SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Results Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Conclusion Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity.

Published
2022

21. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially

Author

Marina, A. Della, Bertolini, A., Wegener-Panzer, A., Flotats-Bastardas, M., Reinhardt, T., Naggar, I. El, Distelmaier, F., Blaschek, A., Schara-Schmidt, U., Brunet, T., Wagner, M., Smirnov, D., Prokisch, H., Wortmann, S.B., Rostasy, K., Marina, A. Della, Bertolini, A., Wegener-Panzer, A., Flotats-Bastardas, M., Reinhardt, T., Naggar, I. El, Distelmaier, F., Blaschek, A., Schara-Schmidt, U., Brunet, T., Wagner, M., Smirnov, D., Prokisch, H., Wortmann, S.B., and Rostasy, K.

Abstract

Item does not contain fulltext, INTRODUCTION: Neuroimmunological diseases such as autoimmune encephalitis (AE) or acquired demyelinating syndromes (ADS), can present with neurological symptoms and imaging features that are indistinguishable from mitochondrial diseases (MD) in particular at initial presentation. METHODS: Retrospective analysis of the clinical, laboratory and neuroimaging features of five patients who presented with signs of a neuroimmunological disease but all had pathological pathogenic variants in genes related to mitochondrial energy metabolism. RESULTS: Four patients presented with an acute neurological episode reminiscent of a possible AE and one patient with a suspected ADS at initial presentation. MRI findings were compatible with neuroimmunological diseases in all patients. In two children cerebrospinal fluid (CSF) studies revealed a mildly elevated cell count, two had elevated CSF lactate, none had oligoclonal bands (OCBs). All patients improved rapidly with intravenous steroids or immunoglobulins. Four patients had one or more relapses. Three patients showed worsening of their neurological symptoms with subsequent episodes and one patient died. Relapses in conjunction with new and progressive neurological symptoms, led to additional work-up which finally resulted in different genetic diagnosis of MD in all patients (MT-TL1, MT-ND5, APOA1-BP, HPDL, POLG). DISCUSSION: We would like to draw attention to a subset of patients with MD initially presenting with signs and symptoms mimicking neuroimmunological. Absence of CSF pleocytosis, elevated CSF lactate and progressive, relapsing course should trigger further (genetic) investigations in search of a MD even in patients with good response initially to immunomodulating therapies.

Published
2022

22. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

Author

Schorling, David C., Kölbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd, Schara‐Schmidt, Ulrike, Lochmüller, Hanns, Roos, Andreas, Abele, Thea Beatrice, Andres, Barbara, Angelova‐Toshkina, Daniela, Baum, Petra, Baum, Tobias, Baumann, Matthias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blankenburg, Markus, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, de Vries, Heike, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Flotats‐Bastardas, Marina, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Gebert, Axel, Geitmann, Stephanie, Goldhahn, Klaus, Grässl, Michael, Gröning, Kristina, Grosskreutz, Julian, Gruber‐Sedlmayr, Ursula, Guillemot, Helene, Günther, René, von der Hagen, Maja, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hiebeler, Miriam, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holtkamp, Britta, Holzwarth, Dorothea, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jansen, Eva, Johannsen, Jessika, Kaindl, Angela, Kaiser, Nadja, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Langer, Thorsten, Lehnert, Ilka, Lingor, Paul, Löscher, Wolfgang N., LoudoviciüKrug, Dana, Martakis, Kyriakos, Mayer, Iris, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Mueller‐Kaempffer, Katharina, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Niederschweiberer, Johanna, Nolte, Anja, Odorfer, Thorsten, Omran, Heymut, Pauschek, Josefine, Pickrodt, Katrin, Plecko, Barbara, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Reinhardt, Tabea, Rödiger, Annekathrin, Roetmann, Gerda, Saffari, Afshin, Schimmel, Mareike, Schlachter, Kurt, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwartz, Oliver, Schwerin‐Nagel, Anette, Schwersenz, Inge, Smitka, Martin, Stein, Sabine, Steinbach, Robert, Steiner, Elisabeth, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Theophil, Manuela, Thiele, Simone, Topakian, Raffi, Trollmann, Regina, Türk, Matthias, van der Stam, Lieske, Vill, Katharina, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiler, Markus, Weiß, Claudia, Weiss, Deike, Weiss, Simone, Wenzel, Franziska, Wider, Sabine, Wiebe, Nils, Wiegand, Gert, Wilichowski, Ekkehard, Wilken, Bernd, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, and Ziegler, Andreas

Subjects
Adult, Proteomics, Adolescent, Oligonucleotides, Medizin, Cathepsin D, Atròfia muscular espinal -- Tractament, Muscular Atrophy, Spinal, Neurology, Humans, Neurology (clinical), Child, Biomarkers, Aged
Abstract

Data de publicació electrònica: 23-03-2022 Background and purpose: The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and therapeutic decision-making remains challenging, underlining the persistent need for validated biomarkers. Methods: We applied untargeted proteomic analyses to determine biomarkers in cerebrospinal fluid (CSF) samples of SMA patients under treatment with nusinersen. Identified candidate proteins were validated in CSF samples of SMA patients by Western blot and enzyme-linked immunosorbent assay. Furthermore, levels of peripheral neurofilament heavy and light chain were determined. Results: Untargeted proteomic analysis of CSF samples of three SMA type 1 patients revealed the lysosomal protease cathepsin D as a candidate biomarker. Subsequent validation analysis in a larger cohort of 31 pediatric SMA patients (type 1, n = 12; type 2, n = 9; type 3, n = 6; presymptomatically treated, n = 4; age = 0-16 years) revealed a significant decline of cathepsin D levels in SMA patients aged ≥2 months at the start of treatment. Although evident in all older age categories, this decline was only significant in the group of patients who showed a positive motor response. Moreover, downregulation of cathepsin D was evident in muscle biopsies of SMA patients. Conclusions: We identified a decline of cathepsin D levels in CSF samples of SMA patients under nusinersen treatment that was more pronounced in the group of "treatment responders" than in "nonresponders." We believe that our results indicate a suitability of cathepsin D levels as a possible biomarker in SMA also in older patients, in combination with analysis of peripheral neurofilament light chain in adolescents or alone in adult patients. Funding: H.L. receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). This work was also supported by a grant of the French Muscular Dystrophy Association (AFM-Téléthon;#21466) to A.R. The work of B.W. is supported by the German Research Foundation (Wi945/17-1, SFB 1451 [project-ID 431549029–A01] and GRK1960 [project ID 233886668]), the European Research Council under the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement 956185 (SMABEYOND), and the Center for Molecular Medicine Cologne (project No C18)

Published
2022

25. SMA CLINICAL DATA

Author

van Otterdijk, S., primary, Kölbel, H., additional, Schönecker, A., additional, Modler, L., additional, Marina, A. Della, additional, Neudorf, U., additional, and Schara, U., additional

Published
2021
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28. Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M, Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, et al, University of Zurich, and Jarius, Sven

Subjects
2403 Immunology, Cellular and Molecular Neuroscience, Neurology, 10036 Medical Clinic, 2808 Neurology, General Neuroscience, Immunology, 2804 Cellular and Molecular Neuroscience, 2800 General Neuroscience, 610 Medicine & health
Published
2020

29. The impact of age and electrode position on amplitude-integrated EEGs in children from 1 month to 17 years of age.

Author

Greve, Sandra, Löelhardt, Verena Tamara, Marina, Adela Della, Felderho-Müser, Ursula, Dohna-Schwake, Christian, and Bruns, Nora

Subjects
CRITICALLY ill children, ELECTRODES, AGE groups
Abstract

Aim: Amplitude-integrated electroencephalography (aEEG) is used to monitor electrocortical activity in critically ill children but age-specific reference values are lacking. We aimed to assess the impact of age and electrode position on aEEG amplitudes and derive normal values for pediatric aEEGs from neurologically healthy children. Methods: Normal EEGs from awake children aged 1 month to 17 years (213 female, 237 male) without neurological disease or neuroactive medication were retrospectively converted into aEEGs. Two observers manually measured the upper and lower amplitude borders of the C3 – P3, C4 – P4, C3 – C4, P3 – P4, and Fp1 – Fp2 channels of the 10–20 system. Percentiles (10th, 25th, 50th, 75th, 90th) were calculated for each age group (<1 year, 1 year, 2–5 years, 6–9 years, 10–13 years, 14–17 years). Results: Amplitude heights and curves differed between channels without sex-specific differences. During the first 2 years of life, upper and lower amplitudes of all but the Fp1–Fp2 channel increased and then declined until 17 years. The decline of the upper Fp1–Fp2 amplitude began at 4 years, while the lower amplitude declined from the 1st year of life. Conclusions: aEEG interpretation must account for age and electrode positions but not for sex in infants and children. [ABSTRACT FROM AUTHOR]

Published
2022
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30. Additional file 4 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Abstract

Additional file 4: Supplementary Figure 4. Influence of age at LP on CSF parameters as detected by a pooled linear regression analysis of data from the pediatric and the adult cohort (r2=0.089 for CSF TP, p

Published
2020
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31. Additional file 5 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Abstract

Additional file 5: Supplementary Table 1. CSF findings during acute attacks and during remission in the ‘acute MY’ subgroup, the ‘acute ON’ subgroup and the ‘acute BRAIN’ subgroup (stratified results from Table 10).

Published
2020
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32. Additional file 8 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Subjects
nervous system, immune system diseases, mental disorders, hemic and immune systems, nervous system diseases
Abstract

Additional file 8: Supplementary Table 4. CSF findings in MOG-IgG-positive acute bilateral ON and in MOG-IgG-positive acute unilateral ON.

Published
2020
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33. Additional file 2 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Abstract

Additional file 2: Supplementary Figure 2. No marked differences in serum IgG, IgM, IgA and albumin levels between the ‘acute MY’, the ‘acute ON’ and the ‘acute BRAIN’ (B) subgroup, except for slightly higher median IgM values in the ‘acute BRAIN’ subgroup as compared to the acute ‘ON’ subgroup.

Published
2020
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34. Additional file 1 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Abstract

Additional file 1: Supplementary Figure 1. CSF white cell counts in the ‘acute MY subgroup’, the ‘acute BRAIN subgroup' and the ‘acute ON subgroup’.

Published
2020
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35. Additional file 3 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Abstract

Additional file 3: Supplementary Figure 3. Regression analysis of QAlb and CSF total protein, demonstrating a close relationship between the two parameters (r2=0.75, p

Published
2020
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36. Additional file 7 of Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Author

Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, and Rostásy, Kevin

Subjects
nervous system, immune system diseases, mental disorders, hemic and immune systems, nervous system diseases
Abstract

Additional file 7: Supplementary Table 3. CSF findings in MOG-IgG-positive acute longitudinally extensive transverse myelitis (LETM) and MOG-IgG-positive non-longitudinally extensive transverse myelitis (NETM).

Published
2020
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37. NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

Author

Marina, Adela Della, primary, Schara, Ulrike, additional, Pyle, Angela, additional, Möller-Hartmann, Claudia, additional, Holinski-Feder, Elke, additional, Abicht, Angela, additional, Czermin, Birgit, additional, Lochmüller, Hanns, additional, Griffin, Helen, additional, Santibanez-Koref, Mauro, additional, Chinnery, Patrick F., additional, and Horvath, Rita, additional

Published
2012
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38. HEREDITARY NEUROPATHIES & ALS

Author

Kölbel, H., primary, Henschel, A., additional, Marina, A. Della, additional, Abicht, A., additional, Sickmann, A., additional, Weis, J., additional, Schara, U., additional, and Roos, A., additional

Published
2020
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39. 242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Author

Munot, Pinki, primary, Robb, Stephanie A., additional, Niks, Erik H., additional, Palace, Jacqueline, additional, Munot, Pinki, additional, Niks, Erik, additional, Robb, Stephanie, additional, Evoli, Amelia, additional, Klein, Andrea, additional, Cruz, Pedro Rodriquez, additional, Eymard, Bruno, additional, Jungbluth, Heinz, additional, Erasmus, Corrie, additional, Marina, Adela Della, additional, Baggi, Fulvio, additional, Kuntz, Nancy, additional, Børresen, Malene, additional, Hughes, Imelda, additional, Ramdas, Sithara, additional, Ryan, Monique, additional, and Pitt, Matthew, additional

Published
2020
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40. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Author

Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A.

Published
2010
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41. First measurement of the quark-to-photon fragmentation function

Author

Buskulic, D., Casper, D., De Bonis, I., Decamp, D., Ghez, P., Goy, C., Lees, J. -P., Lucotte, A., Minard, M. -N., Odier, P., Pietrzyk, B., Ariztizabal, F., Chmeissani, M., Crespo, J. M., Efthymiopoulos, I., Fernandez, E., Fernandez-Bosman, M., Gaitan, V., Garrido, Ll., Martinez, M., Orteu, S., Pacheco, A., Padilla, C., Palla, F., Pascual, A., Perlas, J. A., Sanchez, F., Teubert, F., Colaleo, A., Creanza, D., de Palma, M., Farilla, A., Gelao, G., Girone, M., Iaselli, G., Maggi, G., Maggi, M., Marinelli, N., Natali, S., Nuzzo, S., Ranieri, A., Raso, G., Romano, F., Ruggieri, F., Selvaggi, G., Silvestris, L., Tempesta, P., Zito, G., Huang, X., Lin, J., Ouyang, Q., Wang, T., Xie, Y., Xu, R., Xue, S., Zhang, J., Zhang, L., Zhao, W., Bonvicini, G., Cattaneo, M., Comas, P., Coyle, P., Drevermann, H., Engelhardt, A., Forty, R. W., Frank, M., Hagelberg, R., Harvey, J., Jacobsen, R., Janot, P., Jost, B., Knobloch, J., Lehraus, I., Markou, C., Martin, E. B., Mato, P., Meinhard, H., Minten, A., Miquel, R., Oest, T., Palazzi, P., Pater, J. R., Pusztaszeri, J. -F., Ranjard, F., Rensing, P., Rolandi, L., Schlatter, D., Schmelling, M., Schneider, O., Tejessy, W., Tomalin, I. R., Venturi, A., Wachsmuth, H., Wiedenmann, W., Wildish, T., Witzeling, W., Wotschack, J., Ajaltouni, Z., Bardadin-Otwinowska, M., Barres, A., Boyer, C., Falvard, A., Gay, P., Guicheney, C., Henrard, P., Jousset, J., Michel, B., Monteil, S., Montret, J-C., Pallin, D., Perret, P., Podlyski, F., Proriol, J., Rossignol, J. -M., Saadi, F., Fearnley, T., Hansen, J. B., Hansen, J. D., Hansen, J. R., Hansen, P. H., Nilsson, B. S., Kyriakis, A., Simopoulou, E., Siotis, I., Vayaki, A., Zachariadou, K., Blondel, A., Bonneaud, G., Brient, J. C., Bourdon, P., Passalacqua, L., Rougé, A., Rumpf, M., Tanaka, R., Valassi, A., Verderi, M., Videau, H., Candlin, D. J., Parsons, M. I., Focardi, E., Parrini, G., Corden, M., Delfino, M., Georgiopoulos, C., Jaffe, D. E., Antonelli, A., Bencivenni, G., Bologna, G., Bossi, F., Campana, P., Capon, G., Chiarella, V., Felici, G., Laurelli, P., Mannocchi, G., Murtas, F., Murtas, G. P., Pepe-Altarelli, M., Dorris, S. J., Halley, A. W., ten Have, I., Knowles, I. G., Lynch, J. G., Morton, W. T., O’Shea, V., Raine, C., Reeves, P., Scarr, J. M., Smith, K., Smith, M. G., Thompson, A. S., Thomson, F., Thorn, S., Turnbull, R. M., Becker, U., Braun, O., Geweniger, C., Graefe, G., Hanke, P., Hepp, V., Kluge, E. E., Putzer, A., Rensch, B., Schmidt, M., Sommer, J., Stenzel, H., Tittel, K., Werner, S., Wunsch, M., Beuselinck, R., Binnie, D. M., Cameron, W., Colling, D. J., Dornan, P. J., Konstantinidis, N., Moneta, L., Moutoussi, A., Nash, J., San Martin, G., Sedgbeer, J. K., Stacey, A. M., Dissertori, G., Girtler, P., Kneringer, E., Kuhn, D., Rudolph, G., Bowdery, C. K., Brodbeck, T. J., Colrain, P., Crawford, G., Finch, A. J., Foster, F., Hughes, G., Sloan, T., Whelan, E. P., Williams, M. I., Galla, A., Greene, A. M., Kleinknecht, K., Quast, G., Raab, J., Renk, B., Sander, H. -G., Wanke, R., Zeitnitz, C., Aubert, J. J., Bencheikh, A. M., Bencheikh, C., Benchouk, C., Bonissent, A., Bujosa, G., Calvet, D., Carr, J., Diaconu, C., Etienne, F., Thulasidas, M., Nicod, D., Payre, P., Rousseau, D., Talby, M., Abt, I., Assmann, R., Bauer, C., Blum, W., Brown, D., Dietl, H., Dydak, F., Ganis, G., Gotzhein, C., Jakobs, K., Kroha, H., Lütjens, G., Lutz, G., Männer, W., Moser, H. -G., Richter, R., Rosado-Schlosser, A., Schael, S., Settles, R., Seywerd, H., Stierlin, U., Denis, R. St., Wolf, G., Alemany, R., Boucrot, J., Callot, O., Cordier, A., Courault, F., Davier, M., Duflot, L., Grivaz, J. -F., Heusse, Ph, Jacquet, M., Kim, D. W., Le Diberder, F., Lefrançois, J., Lutz, A. -M., Musolino, G., Nikolic, I., Park, H. J., Park, I. C., Schune, M. -H., Simion, S., Veillet, J. -J., Videau, I., Abbaneo, D., Azzurri, P., Bagliesi, G., Batignani, G., Bettarini, S., Bozzi, C., Calderini, G., Carpinelli, M., Ciocci, M. A., Ciulli, V., Dell’Orso, R., Fantechi, R., Ferrante, I., Foà, L., Forti, F., Giassi, A., Giorgi, M. A., Gregorio, A., Ligabue, F., Lusiani, A., Marrocchesi, P. S., Messineo, A., Rizzo, G., Sanguinetti, G., Sciabà, A., Spagnolo, P., Steinberger, J., Tenchini, R., Tonelli, G., Triggiani, G., Vannini, C., Verdini, P. G., Walsh, J., Betteridge, A. P., Blair, G. A., Bryant, L. M., Cerutti, F., Gao, Y., Green, M. G., Johnson, D. L., Medcalf, T., Mir, L. M., Perrodo, P., Strong, J. A., Bertin, V., Botterill, D. R., Clifft, R. W., Edgecock, T. R., Haywood, S., Edwards, M., Maley, P., Norton, P. R., Thompson, J. C., Bloch-Devaux, B., Colas, P., Duarte, H., Emery, S., Kozanecki, W., Lançon, E., Lemaire, M. C., Locci, E., Marx, B., Perez, P., Rander, J., Renardy, J. -F., Rosowsky, A., Roussarie, A., Schuller, J. -P., Schwindling, J., Mohand, D. Si, Trabelsi, A., Vallage, B., Johnson, R. P., Kim, H. Y., Litke, A. M., McNeil, M. A., Taylor, G., Beddall, A., Booth, C. N., Boswell, R., Cartwright, S., Combley, F., Dawson, I., Koksal, A., Letho, M., Newton, W. M., Rankin, C., Thompson, L. F., Böhrer, A., Brandt, S., Cowan, G., Feigl, E., Grupen, C., Lutters, G., Minguet-Rodriguez, J., Rivera, F., Saraiva, P., Smolik, L., Stephan, F., Apollonio, M., Bosisio, L., Marina, R. Della, Giannini, G., Gobbo, B., Ragusa, F., Rothberg, J., Wasserbaech, S., Armstrong, S. R., Bellantoni, L., Elmer, P., Feng, Z., Ferguson, D. P. S., Gao, Y. S., González, S., Grahl, J., Harton, J. L., Hayes, O. J., Hu, H., McNamara, P. A., Nachtman, J. M., Orejudos, W., Pan, Y. B., Saadi, Y., Schmitt, M., Scott, I. J., Sharma, V., Turk, J. D., Walsh, A. M., Wu, Sau Lan, Wu, X., Yamartino, J. M., Zheng, M., Zobernig, G., and ALEPH Collaboration

Published
1995
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42. Heavy flavour production and decay with prompt leptons in the ALEPH detector

Author

Buskulic, D., Casper, D., De Bonis, I., Decamp, D., Ghez, P., Goy, C., Lees, J. -P., Minard, M. -N., Odier, P., Pietrzyk, B., Ariztizabal, F., Comas, P., Crespo, J. M., Efthymiopoulos, I., Fernandez, E., Fernandez-Bosman, M., Gaitan, V., Garrido, Ll., Martinez, M., Mattison, T., Ortreu, S., Pacheco, A., Padilla, C., Pascual, A., Creanza, D., de Palma, M., Farilla, A., Iaselli, G., Maggi, G., Marinelli, N., Natali, S., Nuzzo, S., Ranieri, A., Raso, G., Romano, F., Ruggieri, F., Selvaggi, G., Silvestris, L., Tempesta, P., Zito, G., Chai, Y., Huang, D., Huang, X., Lin, J., Wang, T., Xie, Y., Xu, D., Xu, R., Zhang, J., Zhang, L., Zhao, W., Bonvicini, G., Boudreau, J., Drevermann, H., Forty, R. W., Ganis, G., Gay, C., Girone, M., Hagelberg, R., Harvey, J., Hilgart, J., Jacobsen, R., Jost, B., Knobloch, J., Lehraus, I., Maggi, M., Markou, C., Mato, P., Meinhard, H., Minten, A., Miquel, R., Palazzi, P., Pater, J. R., Perlas, J. A., Perrodo, P., Pusztaszeri, J. -F., Ranjard, F., Rolandi, L., Rothberg, J., Ruan, T., Saich, M., Schlatter, D., Schmelling, M., Sefkow, F., Tejessy, W., Tomalin, I. R., Veenhof, R., Wachsmuth, H., Wasserbaech, S., Wiedenmann, W., Wildish, T., Witzeling, W., Wotschack, J., Ajaltouni, Z., Bardadin-Otwinowska, M., Barres, A., Boyer, C., Falvard, A., Gay, P., Guicheney, C., Henrard, P., Jousset, J., Michel, B., Montret, J. -C., Pallin, D., Perret, P., Podlyski, F., Proriol, J., Saadi, F., Fearnley, T., Hansen, J. B., Hansen, J. D., Hansen, J. R., Hansen, P. H., Johnson, S. D., Møllerud, R., Nilsson, B. S., Kyriakis, A., Simopoulou, E., Siotis, I., Vayaki, A., Zachariadou, K., Badier, J., Blondel, A., Bonneaud, G., Brient, J. C., Bourdon, B., Fouque, G., Passalacqua, L., Rougé, A., Rumpf, M., Tanaka, R., Verderi, M., Videau, H., Candlin, D. J., Parsons, M. I., Veitch, E., Focardi, E., Moneta, L., Parrini, G., Corden, M., Delfino, M., Georgiopoulos, C., Jaffe, D. E., Levinthal, D., Antonelli, A., Bencivenni, G., Bologna, G., Bossi, F., Campana, P., Capon, G., Cerutti, F., Chiarella, V., Felici, G., Laurelli, P., Mannocchi, G., Murtas, F., Murtas, G. P., Pepe-Altarelli, M., Salomone, S., Colrain, P., ten Have, I., Knowles, I. G., Lynch, J. G., Maitland, W., Morton, W. T., Raine, C., Reeves, P., Scarr, J. M., Smith, K., Smith, M. G., Thompson, A. S., Thorn, S., Turnbull, R. M., Becker, U., Braun, O., Geweniger, C., Hanke, P., Hepp, V., Kluge, E. E., Putzer, A., Rensch, B., Schmidt, M., Stenzel, H., Tittel, K., Wunsch, M., Beuselinck, R., Binnie, D. M., Cameron, W., Cattaneo, M., Colling, D. J., Dornan, P. J., Hassard, J. F., Konstantinidis, N., Moutoussi, A., Nash, J., Payne, D. G., San Martin, G., Sedgbeer, J. K., Wright, A. G., Girtler, P., Kuhn, D., Rudolph, G., Vogl, R., Bowdery, C. K., Brodbeck, T. J., Finch, A. J., Foster, F., Hughes, G., Jackson, D., Keemer, N. R., Nuttall, M., Patel, A., Sloan, T., Snow, S. W., Whelan, E. P., Galla, A., Greene, A. M., Kleinknecht, K., Raab, J., Renk, B., Sander, H. -G., Schmidt, H., Walther, S. M., Wanke, R., Wolf, B., Bencheikh, A. M., Benchouk, C., Bonissent, A., Calvet, D., Carr, J., Coyle, P., Diaconu, C., Etienne, F., Nicod, D., Payre, P., Roos, L., Rousseau, D., Schwemling, P., Talby, M., Adlung, S., Assmann, R., Bauer, C., Blum, W., Brown, D., Cattaneo, P., Dehning, B., Dietl, H., Dydak, F., Frank, M., Halley, A. W., Jakobs, K., Lauber, J., Lütjens, G., Lutz, G., Männer, W., Moser, H. -G., Richter, R., Schröder, J., Schwarz, A. S., Settles, R., Seywerd, H., Stierlin, U., Stiegler, U., Denis, R. St., Wolf, G., Alemany, R., Boucrot, J., Callot, O., Cordier, A., Davier, M., Duflot, L., Grivaz, J. -F., Heusse, Ph., Janot, P., Kim, D. W., Le Diberder, F., Lefrançois, J., Lutz, A. -M., Musolino, G., Schune, M. -H., Veillet, J. -J., Videau, I., Abbaneo, D., Bagliesi, G., Batignani, G., Bottigli, U., Bozzi, C., Calderini, G., Carpinelli, M., Ciocci, M. A., Ciulli, V., Dell'Orso, R., Ferrante, I., Fidecaro, F., Foa, L., Forti, F., Giassi, A., Giorgi, M. A., Gregorio, A., Ligabue, F., Lusiani, A., Marrocchesi, P. S., Martin, E. B., Messineo, A., Palla, F., Rizzo, G., Sanguinetti, G., Spagnolo, P., Steinberger, J., Tenchini, R., Tonelli, G., Triggiani, G., Valassi, A., Vannini, C., Venturi, A., Verdini, P. G., Walsh, J., Betteridge, A. P., Gao, Y., Green, M. G., Johnson, D. L., March, P. V., Medcalf, T., Mir, Ll. M., Quazi, I. S., Strong, J. A., Bertin, V., Botterill, D. R., Clifft, R. W., Edgecock, T. R., Haywood, S., Edwards, M., Norton, P. R., Thompson, J. C., Bloch-Devaux, B., Colas, P., Duarte, H., Emery, S., Kozanecki, W., Lançon, E., Lemaire, M. C., Locci, E., Marx, B., Perez, P., Rander, J., Renardy, J. -F., Rosowsky, A., Roussarie, A., Schuller, J. -P., Schwindling, J., Si Mohand, D., Vallage, B., Johnson, R. P., Litke, A. M., Taylor, G., Wear, J., Babbage, W., Booth, C. N., Buttar, C., Cartwright, S., Combley, F., Dawson, I., Thompson, L. F., Böhrer, A., Brandt, S., Cowan, G., Feigl, E., Grupen, C., Lutters, G., Minguet-Rodriguez, J., Rivera, F., Saraiva, P., Schäfer, U., Smolik, L., Bosisio, L., Marina, R. Della, Giannini, G., Gobbo, B., Pitis, L., Ragusa, F., Bellantoni, L., Chen, W., Conway, J. S., Feng, Z., Ferguson, D. P. S., Gao, Y. S., Grahl, J., Harton, J. L., Hayes, O. J., Hu, H., Nachtman, J. M., Pan, Y. B., Saadi, Y., Schmitt, M., Scott, I., Sharma, V., Turk, J. D., Walsh, A. M., Weber, F. V., Wu, Sau Lan, Wu, X., Yamartino, J. M., Zheng, M., Zobernig, G., and ALEPH Collaboration

Published
1994
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43. Measurement of the tau polarisation at the Z resonance

Author

Buskulic, D., Decamp, D., Goy, C., Lees, J. -P., Minard, M. -N., Mours, B., Pietrzyk, B., Alemany, R., Ariztizabal, F., Comas, P., Crespo, J. M., Delfino, M., Fenandez, E., Fernandez-Bosman, M., Gaitan, V., Garrido, Ll., Mattison, T., Pacheco, A., Padilla, C., Pascual, A., Creanza, D., de Palma, M., Farilla, A., Iaselli, G., Maggi, G., Maggi, M., Natali, S., Nuzzo, S., Quattromini, M., Ranieri, A., Raso, G., Romano, F., Ruggieri, F., Selvaggi, G., Silvestris, L., Tempesta, P., Zito, G., Chai, Y., Hu, H., Huang, D., Huang, X., Lin, J., Wang, T., Xie, Y., Xu, D., Xu, R., Zhang, J., Zhao, W., Bauerdick, L. A. T., Blucher, E., Bonvicini, G., Boudreau, J., Casper, D., Drevermann, H., Forty, R. W., Ganis, G., Gay, C., Hagelberg, R., Harvey, J., Haywood, S., Hilgart, J., Jacobsen, R., Jost, B., Knobloch, J., Lehraus, I., Lohse, T., Lusiani, A., Martinez, M., Mato, P., Meinhard, H., Minten, A., Miotto, A., Miquel, R., Moser, H. -G., Palazzi, P., Perlas, J. A., Pusztaszeri, J. -F., Ranjard, F., Redlinger, G., Rolandi, L., Rothberg, J., Ruan, T., Saich, M., Schlatter, D., Schmelling, M., Sefkow, F., Tejessy, W., Wachsmuth, H., Wiedenmann, W., Wildish, T., Witzeling, W., Wotschack, J., Ajaltouni, Z., Badaud, F., Bardadin-Otwinowska, M., El Fellous, R., Falvard, A., Gay, P., Guicheney, C., Henrard, P., Jousset, J., Michel, B., Montret, J. -C., Pallin, D., Perret, P., Podlyski, F., Proriol, J., Prulhière, F., Saadi, F., Fearnley, T., Hansen, J. D., Hansen, J. R., Hansen, P. H., Møllerud, R., Nilsson, B. S., Candlin, D. J., Parsons, M. I., Veitch, E., Moneta, L., Parrini, G., Corden, M., Georgiopoulos, C., Ikeda, M., Lannutti, J., Levinthal, D., Mermikides, M., Sawyer, L., Wasserbaech, S., Antonelli, A., Baldini, R., Bencivenni, G., Bologna, G., Bossi, F., Campana, P., Capon, G., Cerutti, F., Chiarella, V., D'Ettorre-Piazzoli, B., Felici, G., Laurelli, P., Mannocchi, G., Murtas, F., Murtas, G. P., Passalacqua, L., Pepe-Altarelli, M., Picchi, P., Colrain, P., ten Have, I., Lynch, J. G., Maitland, W., Morton, W. T., Raine, C., Reeves, P., Scarr, J. M., Smith, K., Smith, M. G., Thompson, A. S., Turnbull, R. M., Brandl, B., Braun, O., Geweniger, C., Hanke, P., Hepp, V., Kluge, E. E., Maumary, Y., Putzer, A., Rensch, B., Stahl, A., Tittel, K., Wunsch, M., Belk, A. T., Beuselinck, R., Binnie, D. M., Cameron, W., Cattaneo, M., Colling, D. J., Dornan, P. J., Dugeay, S., Greene, A. M., Hassaed, J. F., Lieske, N. M., Nash, J., Payne, D. G., Phillips, M. J., Sedgbeer, J. K., Tomalin, I. R., Wright, A. G., Girtler, P., Kneringer, E., Kuhn, D., Rudolph, G., Bowdery, C. K., Brodbeck, T. J., Finch, A. J., Foster, F., Hughes, G., Jackson, D., Keemer, N. R., Nuttall, M., Patel, A., Sloan, T., Snow, S. W., Whelan, E. P., Efthymiopoulos, I., Kyriakis, A., Simopoulou, E., Vayaki, A., Zachariadou, K., Badier, J., Blondel, A., Bonneaud, G., Brient, J. C., Fouque, G., Orteu, S., Rougé, A., Rumpf, M., Tanaka, R., Verderi, M., Videau, H., Adlung, S., Assmann, R., Bauer, C., Blum, W., Brown, D., Cattaneo, P., Dehning, B., Dietl, H., Dydak, F., Frank, M., Halley, A. W., Lauber, J., Lütjens, G., Lutz, G., Männer, W., Richter, R., Rotscheidt, H., Schröder, J., Schwarz, A. S., Settles, R., Seywerd, H., Stierlin, U., Stiegler, U., Denis, R. St., Wolf, G., Boucrot, J., Callot, O., Cordier, A., Davier, M., Duflot, L., Grivaz, J. -F., Heusse, Ph., Jaffe, D. E., Janot, P., Kim, D. W., Le Diberder, F., Lefrançois, J., Lutz, A. -M., Schune, M. -H., Veillet, J. -J., Videau, I., Zhang, Z., Abbaneo, D., Bagliesi, G., Batignani, G., Bosisio, L., Bottigli, U., Bozzi, C., Calderini, G., Carpinelli, M., Ciocci, M. A., Dell'Orso, R., Ferrante, I., Fidecaro, F., Foa, L., Focardi, E., Forti, F., Giassi, A., Giorgi, M. A., Gregorio, A., Ligabue, F., Mannelli, E. B., Marrocchesi, P. S., Messineo, A., Palla, F., Rizzo, G., Sanguinetti, G., Spagnolo, P., Steinberger, J., Tenchini, R., Tonelli, G., Triggiani, G., Vannini, C., Venturi, A., Verdini, P. G., Walsh, J., Betteridge, A. P., Carter, J. M., Green, M. G., March, P. V., Mir, Ll. M., Medcalf, T., Quazi, I. S., Strong, J. A., West, L. R., Botterill, D. R., Clifft, R. W., Edgecock, T. R., Edwards, M., Fisher, S. M., Jones, T. J., Norton, P. R., Salmon, D. P., Thompson, J. C., Kleinknecht, K., Raab, J., Renk, B., Sander, H. -G., Schmidt, H., Steeg, F., Walther, S. M., Wanke, R., Wolf, B., Aubert, J. -J., Bencheikh, A. M., Benchouk, C., Bonissent, A., Carr, J., Coyle, P., Drinkard, J., Etienne, F., Nicod, D., Papalexiou, S., Payre, P., Roos, L., Rousseau, D., Schwemling, P., Talby, M., Bloch-Devaux, B., Colas, P., Duarte, H., Kozanecki, W., Lançon, E., Lemaire, M. C., Locci, E., Perez, P., Perrier, F., Rander, J., Renardy, J. -F., Rosowsky, A., Roussarie, A., Schuller, J. -P., Schwindling, J., Si Mohand, D., Vallage, B., Johnson, R. P., Litke, A. M., Taylor, G., Wear, J., Ashman, J. G., Babbage, W., Booth, C. N., Buttar, C., Carney, R. E., Cartwright, S., Combley, F., Hatfield, F., Thompson, L. F., Barberio, E., Böhrer, A., Brandt, S., Cowan, G., Grupen, C., Lutters, G., Rivera, F., Schäfer, U., Marina, R. Della, Giannini, G., Gobbo, B., Ragusa, F., Bellantoni, L., Chen, W., Cinabro, D., Conway, J. S., Cowen, D. F., Feng, Z., Ferguson, D. P. S., Gao, Y. S., Grahl, J., Harton, J. L., Jared, R. C., LeClaire, B. W., Lishka, C., Pan, Y. B., Pater, J. R., Saadi, Y., Schmitt, M., Sharma, V., Shi, Z. H., Walsh, A. M., Weber, F. V., Wu, Sau Lan, Wu, X., Zheng, M., Zobernig, G., and ALEPH Collaboration

Published
1993
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44. Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.

Author

Marina, Adela Della, Pawlitzki, Marc, Ruck, Tobias, Baalen, Andreas van, Vogt, Nadine, Schweiger, Bernd, Hertel, Swantje, Kölbel, Heike, Wiendl, Heinz, Preuße, Corinna, Roos, Andreas, and Schara-Schmidt, Ulrike

Subjects
MUSCLE diseases, CHILDREN'S health, AUTOIMMUNE diseases, IMMUNOGLOBULINS, FOLLOW-up studies (Medicine)
Abstract

(1) Background: Immune–mediated necrotizing myopathy (IMNM) is a rare form of inflammatory muscle disease which is even more rare in pediatric patients. To increase the knowledge of juvenile IMNM, we here present the clinical findings on long-term follow-up, myopathological changes, and therapeutic strategies in two juvenile patients. (2) Methods: Investigations included phenotyping, determination of antibody status, microscopy on muscle biopsies, MRI, and response to therapeutic interventions. (3) Results: Anti-signal recognition particle (anti-SRP54) and anti3-hydroxy-3-methylglutarly coenzyme A reductase (anti-HMGCR) antibodies (Ab) were detected in the patients. Limb girdle presentation, very high CK-levels, and a lack of skin rash at diseasemanifestation and an absence of prominent inflammatory signs accompanied by an abnormal distribution of α-dystroglycan in muscle biopsies initially hinted toward a genetically caused muscle dystrophy. Further immunostaining studies revealed an increase of proteins involved in chaperoneassisted autophagy (CASA), a finding already described in adult IMNM-patients. Asymmetrical muscular weakness was present in the anti-SRP54 positive Ab patient. After initial stabilization under therapy with intravenous immunoglobulins and methotrexate, both patients experienced a worsening of their symptoms and despite further therapy escalation, developed a permanent reduction of their muscle strength and muscular atrophy. (4) Conclusions: Diagnosis of juvenile IMNM might be complicated by asymmetric muscle weakness, lack of cutaneous features, absence of prominent inflammatory changes in the biopsy, and altered α-dystroglycan. [ABSTRACT FROM AUTHOR]

Published
2021
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46. Frequency of Spinal Cord Involvement and Autoantibody Status in a Large Cohort of Children Presenting with a First Acute Demyelinating Syndrome

Author

El Naggar, Ines, additional, Wendel, Eva-Maria, additional, Lechner, Christian, additional, Schanda, Kathrin, additional, Karenfort, Michael, additional, Marina, Adela Della, additional, Thiels, Charlotte, additional, Pritsch, Martin, additional, Leiz, Steffen, additional, Sartori, Stefano, additional, Nosadini, Margherita, additional, Baumann, Matthias, additional, Reindl, Markus, additional, and Rostásy, Kevin, additional

Published
2019
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49. METABOLIC MYOPATHIES II

Author

Kölbel, H., primary, Marina, A. Della, additional, Kaiser, O., additional, Stehling, F., additional, Weis, J., additional, Abicht, A., additional, and Schara, U., additional

Published
2018
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50. P 256. Use of Ketogenic Diets in patients with Epilepsy and Metabolic Disorders in Germany, Austria, and Switzerland

Author

Marina, Adela Della, additional, Leiendecker, Bärbel, additional, Wiemer-Kruel, Adelheid, additional, Makowski, Christine, additional, Wohlrab, Gabriele, additional, Hofmann-Peters, Anne, additional, Scholl-Buergi, Sabine, additional, Stüve, Burkhard, additional, Assmann, Birgit, additional, von Stüpnagel, Celina, additional, Hartmann, Hans, additional, Hethey, Sven, additional, Classen, Georg, additional, Spiegler, Juliane, additional, Kröll-Seger, Judith, additional, Poggenburg, Imke, additional, Panzer, Axel, additional, Gross, Stephanie, additional, Och, Ulrike, additional, Klepper, Jörg, additional, and Schara, Ulrike, additional

Published
2018
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