Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Ingeborg Kraegeloh-Mann"'
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Akademický článek
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature
Autor: Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel
Publikováno v: JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in
Externí odkaz: https://doaj.org/article/4a3ea2bf39934c278c9a7f0dbf03854f
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2
Akademický článek
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Autor: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH s
Externí odkaz: https://doaj.org/article/669f0574667343e2aba272d086c020c6
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3
Clinical significance of diffusion tensor imaging in metachromatic leukodystrophy
Autor: Lucas Bastian Amedick, Pascal Martin, Judith Beschle, Manuel Strölin, Marko Wilke, Nicole Wolf, Petra Pouwels, Gisela Hagberg, Uwe Klose, Thomas Naegele, Ingeborg Kraegeloh-Mann, Samuel Groeschel
Publikováno v: Neuropediatrics. Hippokrates Verlag GmbH
Neuropediatrics
Amedick, L B, Martin, P, Beschle, J, Strölin, M, Wilke, M, Wolf, N, Pouwels, P, Hagberg, G, Klose, U, Naegele, T, Kraegeloh-Mann, I & Groeschel, S 2022, ' Clinical significance of diffusion tensor imaging in metachromatic leukodystrophy ', Neuropediatrics . https://doi.org/10.1055/a-2073-4178
Background Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::522d118ecc2dfc0070dcd493e26f927e
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85161398011&origin=inward
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5
Cerebellar bottom-of-fissure dysplasia - a novel cerebellar gray matter neuroimaging pattern
Autor: Guido F. Laube, Wolfram Schwindt, Mareike Schimmel, A. Hackenberg, Joachim Pietz, Gerhard Kurlemann, Eugen Boltshauser, Andrea Capone, Ingeborg Kraegeloh-Mann, Ianina Scheer, Andrea Poretti
We report on seven patients with a novel neuroimaging finding that involves exclusively the cerebellar gray matter at the bottom of several fissures of both hemispheres but spares the vermis. The abnormal fissures were predominantly located in the lo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c9218d18c9e09d305d1ee30579cb92
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/89849
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6
Destructive subependymal cysts following ventriculitis-pathomechanisms and treatment
Autor: Karin Haas-Lude, Martin U. Schuhmann, Ingeborg Kraegeloh-Mann, Thomas Naegele
Publikováno v: Neuropediatrics. 45(3)
Ventriculitis may complicate neurosurgical procedures, for example, due to shunt or external ventricular drainage infection. Clearance of the infection with subsequent intravenous antibiotic therapy and shunt reinsertion, if necessary, are the standa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712ebf83a17ea3928b43b0cf94a22447
https://pubmed.ncbi.nlm.nih.gov/24390861
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7
Long-term cognitive and neurological outcome of preterm infants with postnatally acquired CMV infection through breast milk
Autor: Christian F. Poets, Klaus Hamprecht, Ingeborg Kraegeloh-Mann, Andrea Bevot, Rangmar Goelz, Christoph Meisner
Publikováno v: Archives of disease in childhood. Fetal and neonatal edition. 98(5)
Long-term follow-up data on preterm infants with breast milk-acquired postnatal cytomegalovirus (CMV) infection are sparse.To systematically evaluate the long-term cognitive outcome and prevalence of cerebral palsy (CP) in patients after postnatal CM
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1add4b9f086e8cf32097bb0f0875b232
https://pubmed.ncbi.nlm.nih.gov/23603882
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8
Benign partial epilepsy in childhood: selective cognitive deficits are related to the location of focal spikes determined by combined EEG/MEG
Autor: Markus Wolff, Ingeborg Kraegeloh-Mann, Nikolaus Weiskopf, Emilio Serra, Hubert Preissl, Nikolaus Birbaumer
Publikováno v: Epilepsia. 46(10)
Summary: Purpose: Benign partial epilepsy (BPE) in childhood is characterized by the occurrence of interictal stereotyped focal spikes with variable localization in the EEG. Children with BPE often exhibit neuropsychological deficits. It is unclear w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60da3fe482b907bc7b780388311fa0e1
https://pubmed.ncbi.nlm.nih.gov/16190940
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