Publikationen

2025

Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures. Genet Med. (2025) 27, 101347. https://doi.org/10.1016/j.gim.2024.101347

Huppke B, Vries H, Blaschek A, Huppke P. Severe Disease Activation after Fingolimod Discontinuation in a Pediatric Multiple Sclerosis Patient: A Case Report and Literature Review. Neuropediatrics. 2025; 56(02): 147-150. https://doi.org/10.1055/a-2496-5294

Reimer D, Brandl U, de Vries H. Pulsatile dexamethasone in patients with Infantile Spasms: A retrospective analysis of a unique therapy regime. Neuropediatrics. 2025; 56(02): 94-101. https://doi.org/10.1055/a-2524-9195

2024

Bertrand M, Shah G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, DiTroia S, Quinlan AR, Haack TB, Husain RA. De novo AHDC1 deletions identified by genome sequencing in two individuals with Xia-Gibbs syndrome. Mol Syndromol. 2024 May 20 https://doi.org/10.1159/000538918 Epub ahead of print.

Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S. Neurological outcome in long-chain hydroxy fatty acid oxidation disorders. Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. https://doi.org/10.1002/acn3.52002

Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain. 2024 Apr 4;147(4):1197-1205. https://doi.org/10.1093/brain/awad434

Pfrimmer C, Smitka M, Muschol N, Husain RA, Huemer M, Hennermann JB, Schuler R, Hahn A. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort. J Neuromuscul Dis. 2024;11(1):167-177. https://doi.org/10.3233/JND-230164

Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024;178(6):540-547. https://doi.org/10.1001/jamapediatrics.2024.0492

Marten LM, Krätzner R, Salomons GS, Fernandez Ojeda M, Dechent P, Gärtner J, Huppke P, Dreha-Kulaczewski S. Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data. Mol Genet Metab Rep. 2024 Jan 18;38:101053. https://doi.org/10.1016/j.ymgmr.2024.101053.

Hammann N, Lenz D, Bianzano A, Husain RA, Forman E, Bernstein JA, Dattner T, Engelen M, Hanson-Kahn AK, Isidor B, Kotzaeridou U, Tietze A, Trollmann R, Weiß C, Wolffenbuttel BHR, Kölker S, Hoffmann GF, Crushell E, Staufner C, Mohr A, Harting I. MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration. J Inherit Metab Dis. 2024 Jul 1. https://doi.org/10.1002/jimd.12764

Clara-Hwang A, Stefani S, Lau T, Scala M, Aynekin B, Bernardo P, Madia F, Bakhtadze S, Kaiyrzhanov R, Maroofian R, Zara F, Srinivasan VM, Gowda V, Guliyeva U, Montavont A, Poulat AL, Güleç A, Berger C, Ville DM, de Bellescize J, Cabet S, Wonneberger A, Schulz A, Rodriguez-Palmero A, Chatron N, Lesca G, Per H, Goel H, Brown J, Frey T, Steindl K, Rauch A, Severino M, Houlden H, Nicolaides P, Striano P, Efthymiou S. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurol Genet. 2024 Jul 11;10(4):e200168. https://doi.org/10.1212/NXG.0000000000200168.

2023

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023;10(1):29-40. https://doi.org/10.3233/JND-221600

Kühne F, Becker LL, Bast T, Bertsche A, Borggraefe I, Boßelmann CM, Fahrbach J, Hertzberg C, Herz NA, Hirsch M, Holtkamp M, Janello C, Kluger GJ, Kurlemann G, Lerche H, Makridis KL, von Podewils F, Pringsheim M, Schubert-Bast S, Schulz J, Schulze-Bonhage A, Steinbart D, Steinhoff BJ, Strzelczyk A, Syrbe S, De Vries H, Wagner C, Wagner J, Wilken B, Prager C, Klotz KA, Kaindl AM. Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study. Epilepsia Open. 2023 Jun;8(2):360-370. https://doi.org/10.1002/epi4.12699.

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252.

Wong KM, Wegener E, Baradaran-Heravi A, Huppke B, Gärtner J, Huppke P. Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome. Int J Mol Sci. 2023 Jul 19;24(14):11665. doi: 10.3390/ijms241411665.

Huppke B, Reinert MC, Hummel-Abmeier H, Stark W, Gärtner J, Huppke P. Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple Sclerosis. Neurology. 2023 Nov 7;101(19):e1873-e1883. doi: 10.1212/WNL.0000000000207791.

Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment. J Inherit Metab Dis. 2023 Nov;46(6):1063-1077. https://doi.org/10.1002/jimd.12653

2022

Weiß C, Ziegler A, Becker L, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. https://doi.org/10.1016/S2352-4642(21)00287-X

Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease. Neuropediatrics 2022; 53(01): 039-045. https://doi.org/10.1055/s-0041-1735250

Ghait M, Husain RA, Duduskar SN, Haack TB, Rooney M, Göhrig B, Bauer M, Rubio I, Deshmukh SD. The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation. Eur J Immunol. 2022 Jun;52(6):907-923. https://doi.org/10.1002/eji.202149612

van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome. Genet Med. 2022 Mar 25:S1098-3600(22)00672-4. https://doi.org/10.1016/j.gim.2022.02.014

Brandl U. Transition bei Epilepsie [Transition to adult care for patients with epilepsy]. Nervenarzt. 2022;93(4):359-365. https://doi.org/10.1007/s00115-022-01271-9

Krupp L, Banwell B, Chitnis T, Deiva K, Gaertner J, Ghezzi A, Huppke P, Waubant E, DeLasHeras V, Azmon A, Karan R. Effect of fingolimod on health-related quality of life in paediatric patients with multiple sclerosis: results from the phase 3 PARADIGMS Study. BMJ Neurol Open. 2022 Feb 24;4(1):e000215. https://doi.org/10.1136/bmjno-2021-000215

Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Mutations in TAF8 cause a neurodegenerative disorder. Brain. 2022 Sep 14;145(9):3022-3034. https://doi.org/10.1093/brain/awac154

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2022 Jul 20:awac252. https://doi.org/10.1093/brain/awac252

Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. https://doi.org/10.1016/j.ajhg.2022.07.007

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. https://doi.org/10.1186/s13023-022-02547-8

Glutig K, Husain R, Renz D, John-Kroegel U, Mentzel HJ. Tuberöse-Sklerose-Komplex [Tuberous sclerosis complex]. Radiologie (Heidelb). 2022;62(12):1058-1066. https://doi.org/10.1007/s00117-022-01053-z

Katja Glutig, Luisa Karoline Lange, Paul-Christian Krüger, Stephanie Gräger, Heike de Vries, Ulrich Brandl, Christian Gaser, Hans-Joachim Mentzel; Differences in Cerebellar Volume as a Diagnostic and Prognostic Biomarker in Children and Adolescents with Epilepsy of Unknown Etiology; Journal of Child Neurology.
https://doi.org/10.1177/08830738221114241

2021

Meier, K., J. Gartner, and P. Huppke, Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy. Neurol Neuroimmunol Neuroinflamm, 2021. 8(1).

Gizak, A., S. Diegmann, S. Dreha-Kulaczewski, J. Wisniewski, P. Duda, A. Ohlenbusch, B. Huppke, M. Henneke, W. Hohne, J. Altmuller, H. Thiele, P. Nurnberg, D. Rakus, J. Gartner, and P. Huppke, A novel remitting leukodystrophy associated with a variant in FBP2. Brain Commun, 2021. 3(2): p. fcab036.

Chitnis, T., B. Banwell, L. Krupp, D.L. Arnold, A. Bar-Or, W. Bruck, G. Giovannoni, B. Greenberg, A. Ghezzi, E. Waubant, K. Rostasy, K. Deiva, P. Huppke, J.S. Wolinsky, Y. Zhang, A. Azmon, K.L. A, R. Karan, and J. Gartner, Temporal profile of lymphocyte counts and relationship with infections with fingolimod therapy in paediatric patients with multiple sclerosis: Results from the PARADIGMS study. Mult Scler, 2021. 27(6): p. 922-932.

Helman G, Mendes M, Nicita F, Darbelli L, Derksen A, Sherbini O, Moore T, Pizzino A, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith D, Hadzsiev K, Hahn A, Biskup S, Brosse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft R, Schiffmann R, Brandl U, Haack TB, Salomons G, C Simons, G Bernard, van der Knaap MS, Vanderver A, Husain RA. Expanded phenotype of AARS1-related white matter disease. Genet Med. 23, 2352–2359 (2021). http://dx.doi.org/10.1038/s41436-021-01286-8

Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. J Inherit Metab Dis. 2021 Jul;44(4):857-870. https://doi.org/10.1002/jimd.12364

Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. https://doi.org/10.1016/j.ajhg.2021.08.003

Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo. Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. Orphanet J Rare Dis 16, 477 (2021). https://doi.org/10.1186/s13023-021-02108-5

2020

Landmark, C. J., and U. Brandl. "Pharmacology and Drug Interactions of Cannabinoids." Epileptic Disord 2020; 22(1):16-22. https://www.jle.com/10.1684/epd.2019.1123

Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators. Epilepsy and cannabidiol: a guide to treatment. Epileptic Disord. 2020 Feb 1; 22(1):1-14. https://www.jle.com/10.1684/epd.2020.1141

Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter M C , Husain R A, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J. „Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101“. Nervenarzt (2020). https://doi.org/10.1007/s00115-020-00919-8

Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet. 2020;107(2):364-373. https://doi.org/10.1016/j.ajhg.2020.06.015

Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Biskup S, Brennenstuhl H, Caldari D, Dikow N, Haack TB, Hanson-Kahn A, Harting I, Horn D, Hughes J, Huijberts M, Isidor B, Kathemann S, Kopajtich R, Kotzaeridou U, Küry S, Lainka E, Laugwitz L, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Schröter J, Vansenne F, Wagner M, Weiß C, Wolffenbuttel BHR, Wortmann SB, Kölker S, Hoffmann GF, Prokisch H, Mendes MI, Staufner C. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med 22, 1863–1873 (2020). https://doi.org/10.1038/s41436-020-0904-4

Ludwig, K., Husain RA, Rubio I. "mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance." Frontiers in Immunology 2020;11:1515. https://doi.org/10.3389/fimmu.2020.01515

Krieg SI, Krägeloh-Mann I, Groeschel S, Beck-Wödl S, Husain RA, Schöls L, Kehrer C. Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data. Orphanet J Rare Dis 15, 243 (2020). https://doi.org/10.1186/s13023-020-01489-3

Märtner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, Santer R, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann GF, Mühlhausen C, Ensenauer R, Garbade SF, Kölker S, Boy N. Impact of interventional and non-interventional variables on Anthropometric Long-Term Development In Glutaric Aciduria Type 1: A National Prospective Multi-Centre Study. J Inherit Metab Dis. 2020 Dec 3. doi: 10.1002/jimd.12335.

2019

Johannesen, Katrine M., Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M. Ville, Nicolas Chatron, Eva Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L. Helbig, Andreas Merkenschlager, Rami Jamra, Anja Finck, Elena Gardella, Helle Hjalgrim, Ghayda Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R. Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaetan Lesca, and Rikke S. Møller. "Defining and Expanding the Phenotype of QARS-Associated Developmental Epileptic Encephalopathy." Neurology Genetics 5 (2019-12-01 00:00:00 2019). https://doi.org/10.1212/NXG.0000000000000373

Arash-Kaps, L., K. Komlosi, M. Seegraber, S. Diederich, E. Paschke, Y. Amraoui, S. Beblo, A. Dieckmann, M. Smitka, and J. B. Hennermann. "The Clinical and Molecular Spectrum of GM1 Gangliosidosis." J Pediatr 215 (Dec 2019): 152-57 e3. https://dx.doi.org/10.1016/j.jpeds.2019.08.016

Wenz, H., A. Dieckmann, T. Lehmann, U. Brandl, and H. J. Mentzel. "Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults." Rofo 191, no. 12 (Dec 2019): 1091-98. Strain-Ultraschallelastografie der Muskulatur bei muskelgesunden Kindern und Erwachsenen. https://dx.doi.org/10.1055/a-0889-8605

Martos Martinez-Caja, A., V. De Herdt, P. Boon, U. Brandl, H. Cock, J. Parra, E. Perucca, V. Thadani, and C. P. H. Moons. "Seizure-Alerting Behavior in Dogs Owned by People Experiencing Seizures." Epilepsy Behav 94 (May 2019): 104-11. https://dx.doi.org/10.1016/j.yebeh.2019.02.001

Griffiths, S., C. Loveday, A. Zachariou, L. A. Behan, K. Chandler, T. Cole, S. D'Arrigo, A. Dieckmann, A. Foster, J. Gibney, M. Hunter, D. Milani, C. Pantaleoni, E. Roche, M. Sherlock, A. Springer, S. M. White, Collaboration Childhood Overgrowth, and K. Tatton-Brown. "EED and EZH2 Constitutive Variants: A Study to Expand the Cohen-Gibson Syndrome Phenotype and Contrast It with Weaver Syndrome." Am J Med Genet A 179, no. 4 (Apr 2019): 588-94. https://dx.doi.org/10.1002/ajmg.a.61066

2018

Schulz, S., M. A. Mensah, H. de Vries, R. Frober, B. Romeike, U. Schneider, S. Borte, D. Schindler, and K. Kentouche. "Microcephaly, Short Stature, and Limb Abnormality Disorder Due to Novel Autosomal Biallelic DONSON Mutations in Two German Siblings." Eur J Hum Genet 26, no. 9 (Sep 2018): 1282-87. https://dx.doi.org/10.1038/s41431-018-0128-0

Castiglia, L., R. A. Husain, I. Marquardt, C. Fink, T. Liehr, D. Serino, M. Elia, and E. G. Coci. "7q11.23 Microduplication Syndrome: Neurophysiological and Neuroradiological Insights into a Rare Chromosomal Disorder." J Intellect Disabil Res 62, no. 5 (May 2018): 359-70. https://dx.doi.org/10.1111/jir.12457

Boy, N., K. Mengler, E. Thimm, K. A. Schiergens, T. Marquardt, N. Weinhold, I. Marquardt, A. M. Das, P. Freisinger, S. C. Grunert, J. Vossbeck, R. Steinfeld, M. R. Baumgartner, S. Beblo, A. Dieckmann, A. Nake, M. Lindner, J. Heringer, G. F. Hoffmann, C. Muhlhausen, E. M. Maier, R. Ensenauer, S. F. Garbade, and S. Kolker. "Newborn Screening: A Disease-Changing Intervention for Glutaric Aciduria Type 1." Ann Neurol 83, no. 5 (May 2018): 970-79. https://dx.doi.org/10.1002/ana.25233

Tacke, M., I. Borggraefe, L. Gerstl, F. Heinen, K. Vill, M. Bonfert, T. Bast, Head Study group, B. A. Neubauer, F. Baumeister, M. Baethmann, K. Bentele, C. Blank, H. M. Blank, H. Bode, F. Bosch, U. Brandl, K. Brockmann, P. Dahlem, J. P. Ernst, E. Feldmann, A. Fiedler, M. Gerigk, S. Hess, C. Hikel, H. G. Hoffmann, M. Kieslich, J. Klepper, G. Kluger, H. Koch, W. Koch, R. Korinthenberg, I. Krois, H. Kuhne, G. Kurlemann, M. Mandl, U. Mause, P. Navratil, J. Opp, J. Penzien, V. Prietsch, A. Quattlander, D. Rating, U. Schara, M. G. Shamdeen, A. Sprinz, H. Wendker-Magrabi, U. Stephani, H. Muhle, H. M. Strassburg, B. Topke, R. Trollmann, E. Tuschen-Hofstatter, S. Waltz, G. Weber, F. U. Wien, M. Wolff, T. Polster, H. Freitag, O. Sonmez, K. Reinhardt, M. Traus, and Z. Hoovey. "Effects of Levetiracetam and Sulthiame on EEEG in Benign Epilepsy with Centrotemporal Spikes: A Randomized Controlled Trial." Seizure 56 (Mar 2018): 115-20. https://dx.doi.org/10.1016/j.seizure.2018.01.015

O'Byrne, J. J., M. Tarailo-Graovac, A. Ghani, M. Champion, C. Deshpande, A. Dursun, R. K. Ozgul, P. Freisinger, I. Garber, T. B. Haack, R. Horvath, I. Baric, R. A. Husain, L. A. J. Kluijtmans, U. Kotzaeridou, A. A. Morris, C. J. Ross, S. Santra, J. Smeitink, M. Tarnopolsky, S. B. Wortmann, J. A. Mayr, M. Brunner-Krainz, H. Prokisch, W. W. Wasserman, R. A. Wevers, U. F. Engelke, R. J. Rodenburg, T. W. Ting, R. McFarland, R. W. Taylor, R. Salvarinova, and C. D. M. van Karnebeek. "The Genotypic and Phenotypic Spectrum of MTO1 Deficiency." Mol Genet Metab 123, no. 1 (Jan 2018): 28-42. https://dx.doi.org/10.1016/j.ymgme.2017.11.003

Moritz Tacke, Nina Rupp, Lucia Gerstl, Florian Heinen, Katharina Vill, Michaela Bonfert, Bernd Axel Neubauer, Thomas Bast, Ingo Borggraefe., Further Members of the German HEAD Study Group: F A M Baumeister, M Baethmann, B Schreiber-Gollwitzer, K Bentele, C Blank, J Held, H M Blank, K Liebrich, H Bode, J Braun, F Bosch, R Wagner, U Brandl, K Wetzel, K Brockmann, C Schlockwerder, P Dahlem, I Baudler, J P Ernst, H Mayer, E Feldmann, A Pattber-Wolff, A Fiedler, S Sonnleitner, M Gerigk, S Heß, T Feiereis, C Hikel, H G Hoffmann, A Rickeshenrich, M Kieslich, R Dewitz, M Baz Bartels, J Klepper, S Kleuker, G Kluger, A Kirsch, H Koch, U Meerpohl, W Koch, R Korinthenberg, B Stehle-Renner, I Krois, A Wegener, H Kühne, C Weiß, G Kurlemann, U Elkemann, M Mandl, A Friedl, U Mause, M Müller, P Navratil, U Iken, J Opp, J Walter, J Penzien, V Prietsch, B Siegrist, A Quattländer, D Rating, G Reuner, U Schara, M G Shamdeen, H Struchholz, A Prinz, H Wendker-Magrabi, U Stephani, H Muhle, G Carlsson, H M Straßburg, H Ottensmeier, B Töpke, K Tatsek, R Trollmann, E Poida-Herzing, E Tuschen-Hofstätter, M Menschig, S Waltz, A Pickartz, G Weber, T Gehnen, F U Wien, J Antemann, M Wolff, E Serra, T Polster, H Freitag, Ö Sönmez, K Rheinhardt, M Traus, A Chröder, S Hoovey, C Navratil. Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neurology. https://pubmed.ncbi.nlm.nih.gov/30259965/

2016

Darin, N., E. Reid, L. Prunetti, L. Samuelsson, R. A. Husain, M. Wilson, B. El Yacoubi, E. Footitt, W. K. Chong, L. C. Wilson, H. Prunty, S. Pope, S. Heales, K. Lascelles, M. Champion, E. Wassmer, P. Veggiotti, V. de Crecy-Lagard, P. B. Mills, and P. T. Clayton. "Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy." Am J Hum Genet 99, no. 6 (Dec 1 2016): 1325-37. https://dx.doi.org/10.1016/j.ajhg.2016.10.011

Ekert, K., S. Groeschel, I. Sanchez-Albisua, S. Frolich, A. Dieckmann, C. Engel, and I. Krageloh-Mann. "Brain Morphometry in Pontocerebellar Hypoplasia Type 2." Orphanet J Rare Dis 11, no. 1 (Jul 19 2016): 100. https://dx.doi.org/10.1186/s13023-016-0481-4

Moritz Tacke, Lucia Gerstl, Florian Heinen, Isabel Heukaeufer, Michaela Bonfert, Thomas Bast, Sonia Cornell, Bernd Axel Neubauer, Ingo Borggraefe. Further members of the German HEAD Study group: F A M Baumeister, M Baethmann, B Schreiber-Gollwitzer, K Bentele, C Blank, J Held, H M Blank, K Liebrich, H Bode, J Braun, F Bosch, R Wagner, U Brandl, K Wetzel, K Brockmann, C Schlockwerder, P Dahlem, I Baudler, J P Ernst, H Mayer, E Feldmann, A Pattber-Wolff, A Fiedler, S Sonnleitner, M Gerigk, S Heß, T Feiereis, C Hikel, H G Hoffmann, A Rickeshenrich, M Kieslich, R Dewitz, M Baz Bartels, J Klepper, S Kleuker, G Kluger, A Kirsch, H Koch, U Meerpohl, W Koch, R Korinthenberg, B Stehle-Renner, I Krois, A Wegener, H Kühne, C Weiß, G Kurlemann, U Elkemann, M Mandl, A Friedl, U Mause, M Müller, P Navratil, U Iken, J Opp, J Walter, J Penzien, V Prietsch, B Siegrist, A Quattländer, D Rating, G Reuner, U Schara, M G Shamdeen, H Struchholz, A Sprinz, H Wendker-Magrabi, U Stephani, H Muhle, G Carlsson, H M Straßburg, H Ottensmeier, B Töpke, K Tatsek, R Trollmann, E Poida-Herzing, E Tuschen-Hofstätter, M Menschig, S Waltz, A Pickartz, G Weber, T Gehnen, F U Wien, J Antemann, M Wolff, E Serra, T Polster, H Freitag, Ö Sönmez, K Rheinhardt, M Traus, A Schröder, S Hoovey, C Navratil. Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS . https://pubmed.ncbi.nlm.nih.gov/27553576/

2015

Rohde, C., A. G. Thiele, U. Och, K. Schonherr, U. Meyer, S. Rosenbaum-Fabian, C. Maddalon, S. Matzken, H. Blessing, F. Lang, M. Jorg-Streller, and S. Beblo. "Effect of Dietary Regime on Metabolic Control in Phenylketonuria: Is Exact Calculation of Phenylalanine Intake Really Necessary?", Mol Genet Metab Rep 5 (Dec 2015): 36-41. https://dx.doi.org/10.1016/j.ymgmr.2015.09.006

Powell, C. A., R. Kopajtich, A. R. D'Souza, J. Rorbach, L. S. Kremer, R. A. Husain, C. Dallabona, C. Donnini, C. L. Alston, H. Griffin, A. Pyle, P. F. Chinnery, T. M. Strom, T. Meitinger, R. J. Rodenburg, G. Schottmann, M. Schuelke, N. Romain, R. G. Haller, I. Ferrero, T. B. Haack, R. W. Taylor, H. Prokisch, and M. Minczuk. "TRMT5 Mutations Cause a Defect in Post-Transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies." Am J Hum Genet 97, no. 2 (Aug 6 2015): 319-28. https://dx.doi.org/10.1016/j.ajhg.2015.06.011

Becker, S., S. Rohnike, S. Empting, D. Haas, K. Mohnike, S. Beblo, U. Mutze, R. A. Husain, J. Thiery, and U. Ceglarek. "LC-MS/MS-Based Quantification of Cholesterol and Related Metabolites in Dried Blood for the Screening of Inborn Errors of Sterol Metabolism." Anal Bioanal Chem 407, no. 17 (Jul 2015): 5227-33. https://dx.doi.org/10.1007/s00216-015-8731-1

Trefz, F. K., A. C. Muntau, F. B. Lagler, F. Moreau, J. Alm, A. Burlina, F. Rutsch, A. Belanger-Quintana, F. Feillet, and Kamper investigators*. "The Kuvan(R) Adult Maternal Paediatric European Registry (Kamper) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin." JIMD Rep 23 (2015): 35-43. https://dx.doi.org/10.1007/8904_2015_425
*Kamper investigators including R. A. Husain

Schaefer, N., C. J. Kluck, K. L. Price, H. Meiselbach, N. Vornberger, S. Schwarzinger, S. Hartmann, G. Langlhofer, S. Schulz, N. Schlegel, K. Brockmann, B. Lynch, C. M. Becker, S. C. Lummis, and C. Villmann. "Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia." J Neurosci 35, no. 1 (Jan 7 2015): 422-37. https://dx.doi.org/10.1523/JNEUROSCI.1509-14.2015

2014

Ramantani, G., L. G. Maillard, T. Bast, R. A. Husain, P. Niggemann, J. Kohlhase, C. Hertzberg, K. Ungerath, M. A. Innes, H. Walkenhorst, A. Bevot, C. von Stulpnagel, K. Thomas, F. Niemann, M. A. Ergun, U. Tacke, M. Hausler, C. Ikonomidou, R. Korinthenberg, and M. A. Lee-Kirsch. "Epilepsy in Aicardi-Goutieres Syndrome." Eur J Paediatr Neurol 18, no. 1 (Jan 2014): 30-7. https://dx.doi.org/10.1016/j.ejpn.2013.07.005

U. Brandl "Ethosuximide in structural-metabolic epilepsy syndromes." Zeitschrift für Epileptologie, 27(2), May 2014, pp. 132-138

2013

Haack, T. B., R. Kopajtich, P. Freisinger, T. Wieland, J. Rorbach, T. J. Nicholls, E. Baruffini, A. Walther, K. Danhauser, F. A. Zimmermann, R. A. Husain, J. Schum, H. Mundy, I. Ferrero, T. M. Strom, T. Meitinger, R. W. Taylor, M. Minczuk, J. A. Mayr, and H. Prokisch. "ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy." Am J Hum Genet 93, no. 2 (Aug 8 2013): 211-23. https://dx.doi.org/10.1016/j.ajhg.2013.06.006

Ingo Borggraefe 1 , Michaela Bonfert, Thomas Bast, Bernd Axel Neubauer, Klaus Juergen Schotten, Kai Maßmann, Soheyl Noachtar, Ingrid Tuxhorn, Theodor W May, Florian Heinen, German HEAD Study Group: F A M Baumeister, M Baethmann, K Bentele, C Blank, C M Blank, H Bode, F Bosch, U Brandl, K Brockmann, P Dahlem, J P Ernst, E Feldmann, A Fiedler, M Gerigk, S Heß, C Hikel, H G Hoffmann, M Kieslich, J Klepper, G Kluger, H Koch, W Koch, R Korinthenberg, I Krois, H Kühne, G Kurlemann, M Mandl, U Mause, H Muhle, P Navratil, J Opp, J Penzien, V Prietsch, A Quattländer, D Rating, U Schara, M G Shamdeen, A Sprinz, U Stephani, H M Straßburg, B Töpke, R Trollmann, E Tuschen-Hofstätter, S Waltz, G Weber, F U Wien, M Wolff. Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study) . https://pubmed.ncbi.nlm.nih.gov/23642492/

2011

Ritter, E., R. A. Husain, K. Hinderhofer, T. Prell, H. J. Fricke, S. Scholl, A. Hochhaus, and P. La Rosee. "Ornithine Transcarbamylase (OTC) Deficiency Based on a Hemizygous p.R277W Mutation Causing Life-Threatening Hyperammonemic Crisis During Treatment for Hodgkin's Lymphoma." Ann Hematol 90, no. 7 (Jul 2011): 857-9. https://dx.doi.org/10.1007/s00277-010-1106-y

2010

Brandl, U., G. Kurlemann, B. Neubauer, K. Rettig, B. Schauble, and A. Schreiner. "Seizure and Cognitive Outcomes in Children and Adolescents with Epilepsy Treated with Topiramate." Neuropediatrics 41, no. 3 (Jun 2010): 113-20. https://dx.doi.org/10.1055/s-0030-1262839.

Burmeister, H. P., U. Brandl, and H. J. Mentzel. "[Persistent Pediatric Falcine Sinus as a Rare Etiology of Diplopia]." Rofo 182, no. 5 (May 2010): 431-3. Der persistierende kindliche falzine Sinus als seltene Ursache einer Diplopie. https://dx.doi.org/10.1055/s-0028-1109903