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ArticlesPeer ReviewedFull Text
Monogenic variants in dystonia: an exome-wide sequencing study
Author / Creator:Zech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Vill, Katharina ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V ; Haberlandt, Edda ; Plecko, Barbara ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H ; Pajusalu, Sander ; Õunap, Katrin ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S ; Riedhammer, Korbinian M ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E ; Zamora, Francisca Millan ; Henderson, Lindsay B ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M ; Ozelius, Laurie J ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D ; Dyment, David ; Chung, Wendy K ; Engels, Hartmut ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, Juliane
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2020-11, Vol.19 (11), p.908-918
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ArticlesPeer ReviewedFull Text
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients
Author / Creator: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 ; Rostásy, Kevin
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroinflammation, 2020-09, Vol.17 (1), p.262-262, Article 262
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ArticlesPeer ReviewedFull Text
Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency
Author / Creator:Grünert, Sarah Catharina ; Eckenweiler, Matthias ; Spiekerkoetter, Ute
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-05, Vol.63 (3), p.207-210
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ArticlesPeer ReviewedFull Text
Measuring the Head Circumference on MRI in Children: an Interrater Study
Author / Creator:Rau, Alexander ; Demerath, Theo ; Kremers, Nico ; Eckenweiler, Matthias ; von der Warth, Rieka ; Urbach, Horst
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Clinical neuroradiology (Munich), 2021-12, Vol.31 (4), p.1021-1027
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ArticlesPeer ReviewedFull Text
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Author / Creator:Mercuri, Eugenio ; Darras, Basil T ; Chiriboga, Claudia A ; Day, John W ; Campbell, Craig ; Connolly, Anne M ; Iannaccone, Susan T ; Kirschner, Janbernd ; Kuntz, Nancy L ; Saito, Kayoko ; Shieh, Perry B ; Tulinius, Már ; Mazzone, Elena S ; Montes, Jacqueline ; Bishop, Kathie M ; Yang, Qingqing ; Foster, Richard ; Gheuens, Sarah ; Bennett, C. Frank ; Farwell, Wildon ; Schneider, Eugene ; De Vivo, Darryl C ; Finkel, Richard S
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2018-02, Vol.378 (7), p.625-635
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ArticlesPeer ReviewedFull Text
Pudding-Beine“ – Eine seltene Manifestation eines Glut1-Defizienz-Syndroms
Author / Creator:Wilbert, Friederike ; Eckenweiler, Matthias
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical Epileptology, 2021-05, Vol.34 (2), p.187-190
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ArticlesPeer ReviewedFull Text
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
Author / Creator:Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam ; Donkervoort, Sandra ; Munot, Pinki ; França, Marcondes C ; Galarza-Brito, Juan Eli ; Eckenweiler, Matthias ; Asamoah, Alexander ; Gable, Kenneth ; Majumdar, Anirban ; Schumann, Anke ; Gupta, Sita D ; Lakhotia, Arpita ; Shieh, Perry B ; Foley, A Reghan ; Jackson, Kelly E ; Chao, Katherine R ; Winder, Thomas L ; Catapano, Francesco ; Feng, Lucy ; Kirschner, Janbernd ; Muntoni, Francesco ; Dunn, Teresa M ; Hornemann, Thorsten ; Bönnemann, Carsten G
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2024-02, Vol.95 (2), p.103-113
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ArticlesPeer ReviewedFull Text
The intrathecal, polyspecific antiviral immune response in neurosarcoidosis, acute disseminated encephalomyelitis and autoimmune encephalitis compared to multiple sclerosis in a tertiary hospital coho...
Author / Creator:Hottenrott, Tilman ; Dersch, Rick ; Berger, Benjamin ; Rauer, Sebastian ; Eckenweiler, Matthias ; Huzly, Daniela ; Stich, Oliver
Publisher:England: BioMed Central Ltd
Journal title:Fluids and barriers of the CNS, 2015-12, Vol.12 (1), p.27-27, Article 27
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ArticlesPeer ReviewedFull Text
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia
Author / Creator:Delle Vedove, Andrea ; Natarajan, Janani ; Zanni, Ginevra ; Eckenweiler, Matthias ; Muiños-Bühl, Anixa ; Storbeck, Markus ; Guillén Boixet, Jordina ; Barresi, Sabina ; Pizzi, Simone ; Hölker, Irmgard ; Körber, Friederike ; Franzmann, Titus M. ; Bertini, Enrico S. ; Kirschner, Janbernd ; Alberti, Simon ; Tartaglia, Marco ; Wirth, Brunhilde
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2022-10, Vol.79 (10), p.526-526, Article 526
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ArticlesPeer ReviewedFull Text
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 / Creator: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
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-384, Article 384
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ArticlesPeer ReviewedFull Text
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, con...
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Syrbe, Steffen ; Saffari, Afshin
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1), p.2-10, Article 2
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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Hertzberg, Christoph ; Weschke, Bernhard ; Kaindl, Angela M ; Lücke, Thomas ; Thiels, Charlotte ; Klotz, Kerstin Alexandra ; Fazeli, Walid ; Rostásy, Kevin ; Wiethoff-Ubrig, Lucia ; Kaiser, Olaf ; Trollmann, Regina ; Mammadova, Dilbar ; Schubert-Bast, Susanne ; Bach, Alexia ; Eckenweiler, Matthias ; Schönberger, Jan ; Martakis, Kyriakos ; Hahn, Andreas ; Brockmann, Knut ; Dreha-Kulaczewski, Steffi ; Weiss, Deike ; Denecke, Jonas ; Muhle, Hiltrud ; Arelin, Maria ; Merkenschlager, Andreas ; Borggräfe, Ingo ; Roser, Timo ; Ebrahimi-Fakhari, Daniel ; Fiedler, Barbara ; Schlump, Jan-Ulrich ; Köster, Ilka ; Korenke, Christoph ; Alber, Michael ; Ruf, Susanne ; Feucht, Martha ; Scholl, Theresa
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1)
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ArticlesPeer ReviewedFull Text
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Hertzberg, Christoph ; Weschke, Bernhard ; Kaindl, Angela M ; Lücke, Thomas ; Thiels, Charlotte ; Klotz, Kerstin Alexandra ; Fazeli, Walid ; Rostásy, Kevin ; Wiethoff-Ubrig, Lucia ; Kaiser, Olaf ; Trollmann, Regina ; Mammadova, Dilbar ; Schubert-Bast, Susanne ; Bach, Alexia ; Eckenweiler, Matthias ; Schönberger, Jan ; Martakis, Kyriakos ; Hahn, Andreas ; Brockmann, Knut ; Dreha-Kulaczewski, Steffi ; Weiss, Deike ; Denecke, Jonas ; Muhle, Hiltrud ; Arelin, Maria ; Merkenschlager, Andreas ; Borggräfe, Ingo ; Roser, Timo ; Ebrahimi-Fakhari, Daniel ; Fiedler, Barbara ; Schlump, Jan-Ulrich ; Köster, Ilka ; Korenke, Christoph ; Alber, Michael ; Ruf, Susanne ; Feucht, Martha ; Scholl, Theresa
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1)
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ReportsFull Text
Measuring the Head Circumference on MRI in Children: an Interrater Study
Author / Creator:Rau, Alexander ; Demerath, Theo ; Kremers, Nico ; Eckenweiler, Matthias ; von der Warth, Rieka ; Urbach, Horst
Publisher:Springer
Journal title:Clinical Neuroradiology, 2021, Vol.31 (4), p.1021
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ReportsFull Text
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Hertzberg, Christoph ; Weschke, Bernhard ; Kaindl, Angela M ; Lücke, Thomas ; Thiels, Charlotte ; Klotz, Kerstin Alexandra ; Fazeli, Walid ; Rostásy, Kevin ; Wiethoff-Ubrig, Lucia ; Kaiser, Olaf ; Trollmann, Regina ; Mammadova, Dilbar ; Schubert-Bast, Susanne ; Bach, Alexia ; Eckenweiler, Matthias ; Schönberger, Jan ; Martakis, Kyriakos ; Hahn, Andreas ; Brockmann, Knut ; Dreha-Kulaczewski, Steffi ; Weiss, Deike ; Denecke, Jonas ; Muhle, Hiltrud ; Arelin, Maria ; Merkenschlager, Andreas ; Borggräfe, Ingo ; Roser, Timo ; Ebrahimi-Fakhari, Daniel ; Fiedler, Barbara ; Schlump, Jan-Ulrich ; Köster, Ilka ; Korenke, Christoph ; Alber, Michael ; Ruf, Susanne ; Feucht, Martha ; Scholl, Theresa
Publisher:BioMed Central Ltd
Journal title:Orphanet Journal of Rare Diseases, 2025, Vol.20 (1)
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ReportsFull Text
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 / Creator:Tassoni, Adrian ; Wenzel, Franziska ; Vogt, Sibylle ; Zöller, Daniela ; Hagenacker, Tim ; Schara-Schmidt, Ulrike ; Bertsche, Astrid ; Vill, Katharina ; Baumann, Matthias ; Hahn, Andreas ; Horber, Veronka ; Jahnel, Jörg ; von Moers, Arpad ; Schreiber, Gudrun ; Schwartz, Oliver ; Weiss, Claudia ; Ziegler, Andreas ; Lochmüller, Hanns ; Ameshofer, Lisa ; Andres, Barbara ; Banholzer, Daniela ; Bant, Christina ; Baum, Petra ; Bellut, Julia ; Bevot, Andrea ; Bischofberger, Jasmin ; Bitzan, Lisa ; Bjelica, Bogdan ; Blankenburg, Markus ; Bonetti, Friederike ; Bongartz, Anke ; Brakemeier, Svenja ; Bratka, Lisa ; Braun, Sarah ; Bretschneider, Christa ; Burke, Bea ; de Vries, Heike ; Denecke, Jonas ; Dibrani, Zylfie ; Drebes, Jessica ; Fischer, Michal ; Fischer, Cornelia ; Freigang, Maren ; Gosk-Tomek, Magdalena ; Gross, Martin ; Hiebeler, Miriam ; Horneff, Viola ; Hubert, Andrea ; Jansen, Eva ; Kappel, Stefan ; Katharina, Bolte ; Kölke, Stefan ; Kostede, Franziska ; Küpper, Hanna ; Lehmann, Helmar ; Leypold, Christine ; Lingor, Paul ; Lipka, Jaqueline ; Malm, Eva ; Müller, Petra ; Müller, Anne ; Neuwirth, Christoph ; Niesert, Moritz ; Pauschek, Josefine ; Pernegger, Elke ; Pilshofer, Veronika ; Plecko, Barbara ; Preisel, Martin ; Pühringer, Manuel ; Quinten, Anna Lisa ; Reckmann, Kerstin ; Roland-Schäfer, Doris ; Roth, Erdmute ; Saffari, Afshin ; Schlag, Melina ; Schreiner, Isabella ; Semmler, Luisa ; Smuda, Karin ; Sprenger-Svacina, Alina ; Stadler, Theresa ; Steuernagel, Daniela ; Tasch, Gehrke ; Thimm, Andreas ; Tiefenthaler, Elke ; Türk, Matthias ; van der Stam, Lieske ; Vollmann, Peter ; Vorgerd, Matthias ; Weiss, Deike ; Wenninger, Stephan ; Werring, Svea ; Wessel, Maria ; Weyen, Ute ; Wider, Sabine ; Wiesenhofer, Anna ; Wiethoff, Sarah ; Wunderlich, Gilbert ; Zeller, Daniel ; Zemlin, Michael ; Zobel, Joachim
Publisher:BioMed Central Ltd
Journal title:Orphanet Journal of Rare Diseases, 2022, Vol.17 (1)
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ReportsFull Text
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients
Author / Creator: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 ; Rostásy, Kevin
Publisher:BioMed Central Ltd
Journal title:Journal of Neuroinflammation, 2020, Vol.17 (1)
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Monogenic variants in dystonia: an exome-wide sequencing study

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

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Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency

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Measuring the Head Circumference on MRI in Children: an Interrater Study

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Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

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Pudding-Beine“ – Eine seltene Manifestation eines Glut1-Defizienz-Syndroms

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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

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The intrathecal, polyspecific antiviral immune response in neurosarcoidosis, acute disseminated encephalomyelitis and autoimmune encephalitis compared to multiple sclerosis in a tertiary hospital coho...

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CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia

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

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, con...

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex

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Measuring the Head Circumference on MRI in Children: an Interrater Study

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...

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

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Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

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