Eine Auswahl an Publikationen

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Publikationsliste 1. Halbjahr 2019

 

Reinehr T*, Schnabel D*, Wabitsch M, Bechtold-Dalla Pozza S, Bührer C, Heidtmann B, Jochum F, Kauth T, Körner A, Mihatsch W , Prell C, Rudloff S, Tittel B, Woelfle J, Zimmer KP, Koletzko B. Vitamin D supplementation after the second year of life: joint position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the German Society for Pediatric Endocrinology and Diabetology (DGKED e.V.). Molecular and Cellular Pediatrics 2019. Im Druck.

Haffner D, Emma F, Eastwood D, Biosse Duplan M, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvent P, Kirchhoff M, Di Rocco, F Chaussain C, Brandi LM, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Clinical practice recommendations for the diagnosis and management of X linked hypophosphatemia. Nat Rev Nephrol 2019 (im Druck).

Rothenbuhler A, Schnabel D, Högler W, Linglart A. Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism. 2019 Mar 27. pii: S0026-0495(19)30065-4.

Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis. 2019 Feb 26;14(1):58.

Binder G, Heidenreich L, Schnabel D, Dunstheimer D, Oeverink R, Kiess W, Körner A, Kratzsch J  Biological Significance of Anti-GH Antibodies in Children Treated with rhGH. Horm Res Paediatr 2019; 91: 1–8

Lennerz BS, Moss A, von Schnurbein J, Bickenbach A, Bollow E, Brandt S, Luetke-Brintrup D, Mühlig Y, Neef M, Ose C, Remy M, Stark R, Teuner C, Wolters B, Kiess W, Scherag A, Reinehr T, Holl RW, Holle R, Wiegand S, Hebebrand J, Wabitsch M. Do adolescents with extreme obesity differ according to previous treatment seeking behavior? The Youth with Extreme obesity Study (YES) cohort. Int J Obes (Lond). 2019 Jan;43(1):103-115.

Mai K, Li L, Wiegand S, Brachs M, Leupelt V, Ernert A, Kühnen P, Hübner N, Robinson P, Chen W, Krude H, Spranger J. An Integrated Understanding of the Molecular Mechanisms of How Adipose Tissue Metabolism Affects Long-term Body Weight Maintenance. Diabetes. 2019 Jan;68(1):57-65.

Hudert CA, Selinski S, Rudolph B, Bläker H, Loddenkemper C, Thielhorn R, Berndt N, Golka K, Cadenas C, Reinders J, Henning S, Bufler P, Jansen PLM, Holzhütter HG, Meierhofer D, Hengstler JG, Wiegand S. Genetic determinants of steatosis and fibrosis progression in paediatric non-alcoholic fatty liver disease. Liver Int. 2019 Mar;39(3):540-556.

Hudert CA, Tzschätzsch H, Rudolph B, Bläker H, Loddenkemper C, Müller HP, Henning S, Bufler P, Hamm B, Braun J, Holzhütter HG, Wiegand S, Sack I, Guo J. Tomoelastography for the Evaluation of Pediatric Nonalcoholic Fatty Liver Disease. Invest Radiol. 2019 Apr; 54(4):198-203.

Jacobi SF, Khajavi N, Kleinau G, Teumer A, Scheerer P, Homuth G, Völzke H, Wiegand S, Kühnen P, Krude H, Gong M, Raile K, Biebermann H. Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes. Diabetes Obes Metab. 2019 May; 21(5):1168-1176.

Neu A, Bürger-Büsing J, Danne T, Dost A, Holder M, Holl RW, Holterhus PM, Kapellen T, Karges B, Kordonouri O, Lange K, Müller S, Raile K, Schweizer R, Sengbusch SV, Stachow R, Wagner V, Wiegand S, Ziegler R. Diagnosis, Therapy and Follow-up of Diabetes Mellitus in Children and Adolescents. Exp Clin Endocrinol Diabetes. 2019 Jun; 127(6):341-352.

Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K. Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668.

Zaqout S, Blaesius K, Wu YJ, Ott S, Kraemer N, Becker LL, Rosário M, Rosenmund C, Strauss U, Kaindl AM. Altered inhibition and excitation in neocortical circuits in congenital microcephaly. Neurobiol Dis. 2019 Sep;129:130-143.

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. PEDIA: prioritization of exome data by image analysis.Genet Med. 2019 Jun 5.

Corresponding author: Dr Ellen Knierim Listed co-author(s): Dr Anna Tietze, Professor Markus Schuelke, Professor Werner Stenzel, Dr A Kaindl, Dr Leonille Schweizer, Dr Marc Nikolaus Brain and Development Submission title: Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: a new guise for an old disease Im Druck.

Danyel M, Suk EK, Raile V, Gellermann J, Knaus A, Horn D. Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report. BMC Med Genomics. 2019 Jan 10; 12(1): 6.

Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ, Seelow D, Knierim E, Stenzel W, Kihara A, Schuelke M. De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. J Med Genet. 2019 Mar; 56(3):164-175.

Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S. Phenotero: Annotate as you write. Clin Genet. 2019 Feb;95(2):287-292.

Nikolaus M, Kreye J, Turko P, Vida I, Knierim E, Prüss H. CSF reactivity in GABAA receptor antibody encephalitis - Immunocytochemical distribution in the murine brain. Brain Res. 2019 Feb 1; 1704:249-256.

Langenbruch L, Rickert C, Gosheger G, Schorn D, Schliemann B, Brix T, Elger CE, Meuth SG, Kovac S. Seizure-induced shoulder dislocations - Case series and review of the literature. Seizure. 2019 Jun 20; 70:38-42.

Reber TP, Bausch M, Mackay S, Boström J, Elger CE, Mormann F. Representation of abstract semantic knowledge in populations of human single neurons in the medial temporal lobe. PLoS Biol. 2019 Jun 3; 17(6):e3000290.

Nass RD, Hampel KG, Elger CE, Surges R. Blood Pressure in Seizures and Epilepsy. Front Neurol. 2019 May 14; 10:501.

David B, Prillwitz CC, Hoppe C, Sassen R, Hörsch S, Weber B, Hattingen E, Elger CE, Rüber T. Morphometric MRI findings challenge the concept of the "unaffected" hemisphere in Rasmussen encephalitis. Epilepsia. 2019 May; 60(5):e40-e46.

Koch H, Niturad CE, Theiss S, Bien CG, Elger C, Wandinger KP, Vincent A, Malter M, Körtvelyessy P, Lerche H, Dihné M. In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients. Sci Rep. 2019 Apr 3;9(1):5591. 

Staresina BP, Reber TP, Niediek J, Boström J, Elger CE, Mormann F. Recollection in the human hippocampal-entorhinal cell circuitry. Nat Commun. 2019 Apr 3;10(1):1503. 

Witt JA, Coras R, Becker AJ, Elger CE, Blümcke I, Helmstaedter C When does conscious memory become dependent on the hippocampus? The role of memory load and the differential relevance of left hippocampal integrity for short- and long-term aspects of verbal memory performance. Brain Struct Funct. 2019 May; 224(4):1599-1607.

Nass RD, Hansen N, Quesada C, Rüber T, Kornblum C, Zsurka G, Hermann P, Becker A, Gärtner F, Hattingen E, Block W, Steidl E, Elger CE, Surges R, Kunz WS. Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier. Seizure. 2019 Mar; 66:1-3. doi:

Nass RD, Motloch LJ, Paar V, Lichtenauer M, Baumann J, Zur B, Hoppe UC, Holdenrieder S, Elger CE, Surges R. Blood markers of cardiac stress after generalized convulsive seizures. Epilepsia. 2019 Feb; 60(2):201-210.

Guilliams KP, Kirkham FJ, Holzhauer S, Pavlakis S, Philbrook B, Amlie-Lefond C, Noetzel MJ, Dlamini N, Sharma M, Carpenter JL, Fox CK, Torres M, Ichord RN, Jordan LC, Dowling MM. Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management. Stroke. 2019 May; 50(5):1089-1094.

Weimar C, Holzhauer S, Knoflach M, Koennecke HC, Masuhr F, Mono ML, Niederstadt T, Nowak-Göttl U, Schellong SM, Kurth T. [Cerebral venous and sinus thrombosis : S2k guidelines]. Nervenarzt. 2019 Apr;90(4):379-387.

Brogan PA, Hofer M, Kuemmerle-Deschner JB, Koné-Paut I, Roesler J, Kallinich T, Horneff G, Calvo Penadés I, Sevilla-Perez B, Goffin L, Lauwerys BR, Lachmann HJ, Uziel Y, Wei X, Laxer RM. Canakinumab provides rapid and sustained long-term efficacy and safety in patients with cryopyrin-associated periodic syndrome aged ≤5 years. Arthritis Rheumatol. 2019 Jun 4.

Hradilkova K, Maschmeyer P, Westendorf K, Schliemann H, Husak O, von Stuckrad SL, Kallinich T, Minden K, Durek P, Grün JR, Chang HD, Radbruch A. T helper lymphocytes of chronic inflammation are maintained by fatty acid oxidation and adapt to it through Twist1. Arthritis Rheumatol. 2019 May 27.

Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019 Apr 24. pii: annrheumdis-2019-215048.

Chuamanochan M, Weller K, Feist E, Kallinich T, Maurer M, Kümmerle-Deschner J, Krause K. State of care for patients with systemic autoinflammatory diseases - Results of a tertiary care survey. World Allergy Organ J. 2019 Mar 14;12(3):100019.

Milatz F, Klotsche J, Niewerth M, Geisemeyer N, Trauzeddel R, Weißbarth-Riedel E, Kallinich T, Peitz J, Hartmann M, Minden K. Participation in school sports among children and adolescents with juvenile idiopathic arthritis in the German National Paediatric Rheumatologic Database, 2000-2015: results from a prospective observational cohort study. Pediatr Rheumatol Online J. 2019 Feb 11;17(1):6.

Roehmel JF, Kallinich T, Staab D, Schwarz C. Clinical manifestations and risk factors of arthropathy in cystic fibrosis. Respir Med. 2019 Feb;147:66-71.

Kallinich T, Blank N, Braun T, Feist E, Kiltz U, Neudorf U, Oommen PT, Weseloh C, Wittkowski H, Braun J. [Evidence-based treatment recommendations for familial Mediterranean fever : A joint statement by the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology]. Z Rheumatol. 2019 Feb;78(1):91-101.

Neu A, Bürger-Büsing J, Danne T, Dost A, Holder M, Holl RW, Holterhus PM, Kapellen T, Karges B, Kordonouri O, Lange K, Müller S, Raile K, Schweizer R, Sengbusch SV, Stachow R, Wagner V, Wiegand S, Ziegler R. Diagnosis, Therapy and Follow-up of Diabetes Mellitus in Children and Adolescents. Exp Clin Endocrinol Diabetes. 2019 Jun;127(6):341-352.

Gong M, Yu Y, Liang L, Vuralli D, Froehler S, Kuehnen P, Du Bois P, Zhang J, Cao A, Liu Y, Hussain K, Fielitz J, Jia S, Chen W, Raile K. HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion. Mol Genet Genomic Med. 2019 May;7(5):e602.

Jacobi SF, Khajavi N, Kleinau G, Teumer A, Scheerer P, Homuth G, Völzke H, Wiegand S, Kühnen P, Krude H, Gong M, Raile K, Biebermann H. Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes. Diabetes Obes Metab. 2019 May;21(5):1168-1176.

Warncke K, Kummer S, Raile K, Grulich-Henn J, Woelfle J, Steichen E, Prinz N, Holl RW. Frequency and Characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): Analysis From the DPV Database. J Clin Endocrinol Metab. 2019 Mar 1;104(3):845-855.

Albermann, K., Wiegand-Grefe, S., & Winter, S. (2019). Kinderschutz in Familien mit einem psychisch erkrankten Elternteil. Praxis der Kinderpsychologie und Kinderpsychiatrie, 68(1), 6-26.

Kluczniok D, Dittrich K, Hindi Attar C, Bödeker K, Roth M, Jaite C, Winter S, Herpertz SC, Röpke S, Heim C, Bermpohl F. (2019). [Oxytocin and maltreatment potential: Influence of maternal depression, borderline personality disorder and experience of early childhood maltreatment]. Nervenarzt, 90(3):267-276. doi: 10.1007/s00115-019-0688-4.

Schwabe G, Baechli H, Boltshauser E, Kaindl AM. Entwicklungsstörungen des Nervensystems. In: Hoffmann G (Ed.). Facharztbuch Pädiatrie. Springer Medizinverlag, Heidelberg, Germany.

 Kaindl AM; Boltshauser E. Entwicklungsstörungen des zentralen Nervensystems. In: Klinische Neurologie. 2018. Springer Medizinverlag, Heidelberg, Germany.

 Kaindl AM, Klein Ch. Dystonien. In: Neuropädiatrie; Aksu F. Uni-Med Verlag. 5. Auflage. Im Druck.

Kaindl AM, Dietz B, Schneider J. Spinale Fehlbildungen. In: Neuropädiatrie; Aksu F. Uni-Med Verlag. 5. Auflage. Im Druck.

Kaindl AM. Mikrozephalie. In: Neuropädiatrie; Aksu F. Uni-Med Verlag. 5. Auflage. Im Druck.

Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K. Structural brain anomalies in patients with FOXG1 syndrome and Foxg1+/- mice. Ann Clin Transl Neurol 2019;6(4):655-668.

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl AM, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. PEDIA: prioritization of exome data by image analysis. Genet Med 2019. Im Druck.

Nikolaus Mm Tietze A, Schweizer L, Kaindl AM, Stenzel W, Schülke M, Knierim E. Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: a new guise for an old disease. Brain Dev 2019. Im Druck.

Zaqout S, Blaesius K, Wu YJ, Ott S, Kraemer N, Becker LL, Rosario M, Rosenmund C, Strauss U, Kaindl AM. Altered inhibition and excitation in neocortical circuits in congenital microcephaly. Neurobiol Dis 2019;129:130-143.

Zaqout S, Stoltenburg-Didinger G, Kaindl AM. Congenital microcephaly-linked CDK5RAP2 affects eye development. Ann Hum Genet 2019. Im Druck.