Publications by authors named "Markus Schuelke"

99Publications

A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.

Mol Genet Metab 2020 Sep 4. Epub 2020 Sep 4.

Schneider Children's Medical Center, Petach Tikva, Israel; Department of Child Neurology, Neurogenetic Service, Affiliated to Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.08.008DOI Listing
September 2020

Presence of anti-neuronal antibodies in children with neurological disorders beyond encephalitis.

Eur J Paediatr Neurol 2020 Sep 30;28:159-166. Epub 2020 Jul 30.

Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität, Humboldt-Universität, Berlin Institute of Health, Berlin, Germany; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität, Humboldt-Universität, Berlin Institute of Health, Berlin, Germany; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität, Humboldt-Universität, Berlin Institute of Health, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.07.004DOI Listing
September 2020

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Neurogastroenterol Motil 2020 Jun 22:e13923. Epub 2020 Jun 22.

Medizinische Fakultät Carl Gustav Carus, Children's Hospital, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1111/nmo.13923DOI Listing
June 2020

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Exp Clin Endocrinol Diabetes 2020 Jun 2;128(6-07):414-422. Epub 2020 Apr 2.

Division of Metabolic Diseases, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1055/a-1108-1456DOI Listing
June 2020

Complement deposition at the neuromuscular junction in seronegative myasthenia gravis.

Acta Neuropathol 2020 06 10;139(6):1119-1122. Epub 2020 Mar 10.

Department of Neurology and NeuroCure Clinical Research Center, Berlin Institute of Health (BIH), Charité-Universitätsmedizin, Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s00401-020-02147-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244604PMC
June 2020

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 01 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493PMC
January 2020

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Am J Med Genet A 2020 03 11;182(3):570-575. Epub 2019 Dec 11.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61435DOI Listing
March 2020

Hybrid genome assembly and annotation of Danionella translucida.

Sci Data 2019 08 26;6(1):156. Epub 2019 Aug 26.

Einstein Center for Neurosciences, NeuroCure Cluster of Excellence, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.

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http://dx.doi.org/10.1038/s41597-019-0161-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710283PMC
August 2019

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Brain Dev 2019 Nov 22;41(10):901-904. Epub 2019 Jul 22.

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Sozialpädiatrisches Zentrum, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.07.002DOI Listing
November 2019

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Nucleic Acids Res 2019 07;47(W1):W106-W113

Centrum für Therapieforschung, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkz327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602480PMC
July 2019

MutationDistiller: user-driven identification of pathogenic DNA variants.

Nucleic Acids Res 2019 07;47(W1):W114-W120

Berliner Institut für Gesundheitsforschung (BIH), Berlin, Germany Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkz330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602447PMC
July 2019

Motor function in survivors of pediatric acute lymphoblastic leukemia treated with chemotherapy-only.

Eur J Paediatr Neurol 2019 Mar 17;23(2):304-316. Epub 2018 Dec 17.

Department of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.12.005DOI Listing
March 2019

De novo mutation in causes ichthyosis, , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

J Med Genet 2019 03 28;56(3):164-175. Epub 2018 Nov 28.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2018-105711DOI Listing
March 2019

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Ann Clin Transl Neurol 2018 Nov 14;5(11):1385-1393. Epub 2018 Oct 14.

Department of Neuropathology Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health Berlin Germany.

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http://doi.wiley.com/10.1002/acn3.662
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http://dx.doi.org/10.1002/acn3.662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243389PMC
November 2018

Phenotero: Annotate as you write.

Clin Genet 2019 02 7;95(2):287-292. Epub 2018 Dec 7.

NeuroCure Clinical Research Center, Charité Universitätsmedizin, Berlin, Germany.

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http://doi.wiley.com/10.1111/cge.13471
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http://dx.doi.org/10.1111/cge.13471DOI Listing
February 2019

Transparent Danionella translucida as a genetically tractable vertebrate brain model.

Nat Methods 2018 11 15;15(11):977-983. Epub 2018 Oct 15.

Einstein Center for Neurosciences, NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://www.nature.com/articles/s41592-018-0144-6
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http://dx.doi.org/10.1038/s41592-018-0144-6DOI Listing
November 2018

Cytoplasmic body myopathy revisited.

Neuromuscul Disord 2018 11 30;28(11):969-971. Epub 2018 Aug 30.

Department of Neuropathology, Campus Charité Mitte, Berlin, Germany; Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.08.006DOI Listing
November 2018

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

JIMD Rep 2019 14;43:27-35. Epub 2018 Apr 14.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1007/8904_2018_93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323020PMC
April 2018

Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child.

Neurology 2018 01 20;90(4):183-185. Epub 2017 Dec 20.

From Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, HumboldtUniversität zu Berlin, and Berlin Institute of Health (M.N., H.P., M.S., E.K.); Vivantes Klinikum Neukoelln (S.J.-D.); German Center for Neurodegenerative Diseases (DZNE) (H.P.); and NeuroCure Clinical Research Center (M.S., E.K.), Berlin, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000004861DOI Listing
January 2018

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

J Med Genet 2018 02 24;55(2):81-85. Epub 2017 Nov 24.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2017-105020DOI Listing
February 2018

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Mitochondrion 2017 11 4;37:46-54. Epub 2017 Jul 4.

NeuroCure Clinical Research Center (NCRC), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249163028
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http://dx.doi.org/10.1016/j.mito.2017.06.007DOI Listing
November 2017

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Hum Genet 2017 07 24;136(7):903-910. Epub 2017 May 24.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-017-1814-7DOI Listing
July 2017

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Brain 2016 12 29;139(Pt 12):e70. Epub 2016 Oct 29.

1 Department of Neuropaediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin-Berlin, Germany.

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http://dx.doi.org/10.1093/brain/aww252DOI Listing
December 2016

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Acta Neuropathol 2016 09 2;132(3):475-8. Epub 2016 Aug 2.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s00401-016-1602-9DOI Listing
September 2016

Erratum to: A systematic, large-scale comparison of transcription factor binding site models.

BMC Genomics 2016 07 20;17(1):502. Epub 2016 Jul 20.

Department of Neuropaediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1186/s12864-016-2818-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4952225PMC
July 2016

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Mov Disord 2016 11 12;31(11):1733-1739. Epub 2016 Jul 12.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/mds.26704DOI Listing
November 2016

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.

Skelet Muscle 2016 5;6:25. Epub 2016 Jul 5.

Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany ; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1186/s13395-016-0095-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932663PMC
October 2016

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Am J Med Genet A 2016 09 9;170(9):2274-81. Epub 2016 Jun 9.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37798DOI Listing
September 2016

A systematic, large-scale comparison of transcription factor binding site models.

BMC Genomics 2016 05 21;17:388. Epub 2016 May 21.

Department of Neuropaediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1186/s12864-016-2729-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875604PMC
May 2016

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Hum Mol Genet 2016 07 18;25(14):2985-2996. Epub 2016 May 18.

Institute of Genetic Medicine, Newcastle University, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/hmg/ddw149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591PMC
July 2016

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Neurol Genet 2015 Dec 22;1(4):e32. Epub 2015 Oct 22.

Departments of Neuropediatrics (G.S., D.S., F.S., S.M.-G., E.G., M.S.) and Neuropediatrics/SPZ (K.v.A.), NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany; the Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, Germany; and the DRK Children's Hospital Berlin (A.v.M.), Germany.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811389PMC
December 2015

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Muscle Nerve 2016 Apr 3;53(4):564-9. Epub 2015 Sep 3.

Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/mus.24885DOI Listing
April 2016

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

J Med Genet 2015 Sep 5;52(9):607-11. Epub 2015 Jun 5.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103083DOI Listing
September 2015

Cavin 1 function does not follow caveolar morphology.

Am J Physiol Cell Physiol 2015 Jun 22;308(12):C1023-30. Epub 2015 Apr 22.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin, Berlin, Germany

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http://dx.doi.org/10.1152/ajpcell.00329.2014DOI Listing
June 2015

Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.

J Inherit Metab Dis 2015 Sep 3;38(5):983-4. Epub 2015 Feb 3.

Department of Neuropediatrics and the NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s10545-015-9812-1DOI Listing
September 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Neurology 2015 Feb 7;84(5):523-31. Epub 2015 Jan 7.

From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's Hospital, St Thomas' Hospital, the Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section and the Department of Clinical Neuroscience, IoP, King's College, London, UK; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics (U.S.), University of Essen, Germany; Department of Neurology (F.N.), King's College Hospital, London; Department of Clinical Genetics (C.D.), Guy's Hospital, London, UK; and Friedrich Baur Institute (J.S.), Department of Neurology, Ludwig Maximilians University Munich, Germany.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000122
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http://dx.doi.org/10.1212/WNL.0000000000001220DOI Listing
February 2015

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Mitochondrion 2015 Jan 4;20:1-6. Epub 2014 Nov 4.

NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.10.007DOI Listing
January 2015

Infant botulism: is there an association with thiamine deficiency?

Pediatrics 2014 Nov 13;134(5):e1436-40. Epub 2014 Oct 13.

Center for Biological Threats and Special Pathogens-Biological Toxins (ZBS3), Robert Koch-Institute, Berlin, Germany.

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http://dx.doi.org/10.1542/peds.2013-3378DOI Listing
November 2014

Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle.

Am J Physiol Regul Integr Comp Physiol 2014 Aug 25;307(4):R444-54. Epub 2014 Jun 25.

Sorbonne Universités, Universités Européennes, l'Université Pierre et Marie Curie (UPMC), Paris 06, Myology Center of Research and Institut National de la Santé et de la Recherche Médicale, UMR S974 and Centre National de la Recherche Scientifique, FRE 3617 and Institut de Myologie, Paris, France; Laboratoire "End:icap", UFR des Sciences de la Santé, Université de Versailles Saint-Quentin-en-Yvelines, France; Laboratoire International Associé - Biothérapies Appliquées aux Handicaps Neuromusculaires, Centre Scientifique de Monaco, Monaco;

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http://dx.doi.org/10.1152/ajpregu.00377.2013DOI Listing
August 2014

Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.

Mol Ther 2014 Aug 27;22(8):1423-1433. Epub 2014 May 27.

Université Pierre et Marie Curie, Institut de Myologie, Unité mixte de recherche UPMC-AIM UM 76, INSERM U 974, CNRS UMR 7215, Paris, France; UFR des Sciences de la Santé, Université de Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France; Service Génétique Médicale, CHU Necker-Enfants Malades, Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1038/mt.2014.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435590PMC
August 2014

MutationTaster2: mutation prediction for the deep-sequencing age.

Nat Methods 2014 Apr;11(4):361-2

1] Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany. [2] NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/nmeth.2890DOI Listing
April 2014

Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness.

Intensive Care Med 2014 Apr 15;40(4):528-38. Epub 2014 Feb 15.

Anesthesiology and Operative Intensive Care Medicine, Charité-Universitätsmedizin Berlin, Campus Virchow and Campus Mitte, Berlin, Germany.

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http://dx.doi.org/10.1007/s00134-014-3224-9DOI Listing
April 2014

Identifying dynamic membrane structures with atomic-force microscopy and confocal imaging.

Microsc Microanal 2014 Apr 13;20(2):514-20. Epub 2014 Feb 13.

1 Muscle Research Unit, Experimental and Clinical Research Center, a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine Berlin, Lindenberger Weg 80, D-13125 Berlin, Germany.

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http://dx.doi.org/10.1017/S1431927613014098DOI Listing
April 2014

Potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease.

Neurology 2014 Feb 10;82(6):470-3. Epub 2014 Jan 10.

From the Departments of Pediatrics (V.K.) and Neurology (R.S., S.R.K., V.G., B.H.), Klinikum rechts der Isar, Technische Universität, Munich; Department of Neuropediatrics (U.S., M.S.), Charité Universitätsmedizin, Berlin; Department of Pediatrics (M.S.), Hospital Augsburg, Germany; Department of Neuropediatrics (K.R.), University Hospital Innsbruck, Austria; Department of Pediatrics (S.L.), Hospital Dritter Orden, Munich; Department of Pediatric Surgery (S.H.), Städtisches Klinikum München GmbH, Klinikum Schwabing, Munich; and Munich Cluster for Systems Neurology (SyNergy) (B.H.), Munich, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000097DOI Listing
February 2014

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

J Med Genet 2014 Feb 6;51(2):137-42. Epub 2013 Dec 6.

Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102012DOI Listing
February 2014

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Nat Genet 2013 Oct 18;45(10):1216-20. Epub 2013 Aug 18.

1] Else Kröner-Fresenius-Zentrum für Ernährungsmedizin (EKFZ), Technische Universität München (TUM), Freising, Germany. [2] Zentralinstitut für Ernährungs- und Lebensmittelforschung (ZIEL), TUM, Freising, Germany. [3] Department of Pediatrics, Klinikum Rechts der Isar (MRI), TUM, Munich, Germany.

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http://dx.doi.org/10.1038/ng.2730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909499PMC
October 2013

Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs.

Proteomics 2013 Jan 18;13(1):179-95. Epub 2012 Dec 18.

Department of Neuropediatrics, Charité University Medical Center, Berlin, Germany.

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http://dx.doi.org/10.1002/pmic.201100539DOI Listing
January 2013

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.

Hum Gene Ther 2012 Dec 24;23(12):1269-79. Epub 2012 Sep 24.

Leiden University Medical Center (LUMC), Department of Human Genetics, 2333 ZC Leiden, The Netherlands.

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http://www.liebertpub.com/doi/10.1089/hum.2012.056
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http://dx.doi.org/10.1089/hum.2012.056DOI Listing
December 2012

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.

Nucleic Acids Res 2012 Jul 4;40(Web Server issue):W516-20. Epub 2012 Jun 4.

NeuroCure Clinical Research Centre, Charité - Universitätsmedizin Berlin, Charitéplatz 1, D-10117 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gks487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394249PMC
July 2012

Region-specific expression of mitochondrial complex I genes during murine brain development.

PLoS One 2011 Apr 27;6(4):e18897. Epub 2011 Apr 27.

Department of Neuropediatrics, NeuroCure Clinical Research Centre, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018897PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083399PMC
April 2011

Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

Stroke 2011 Feb 23;42(2):e14-7. Epub 2010 Dec 23.

Department of Neuropediatrics, Charité Universitätsmedizin Berlin, D-13353 Berlin, Germany.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.110.600023
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http://dx.doi.org/10.1161/STROKEAHA.110.600023DOI Listing
February 2011

Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria.

Brain 2011 Feb 22;134(Pt 2):345-58. Epub 2010 Dec 22.

Institute for Neurophysiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awq333DOI Listing
February 2011

Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during development.

Biochim Biophys Acta 2009 Oct 30;1788(10):2309-19. Epub 2009 Jul 30.

Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.bbamem.2009.07.018DOI Listing
October 2009

HomozygosityMapper--an interactive approach to homozygosity mapping.

Nucleic Acids Res 2009 Jul 21;37(Web Server issue):W593-9. Epub 2009 May 21.

Department of Neuropaediatrics, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkp369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703915PMC
July 2009

GeneDistiller--distilling candidate genes from linkage intervals.

PLoS One 2008 5;3(12):e3874. Epub 2008 Dec 5.

Department of Neuropaediatrics, Charité University Medical School, Berlin, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587712PMC
January 2009

Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.

Horm Res 2008 17;69(6):363-8. Epub 2008 Mar 17.

Institute of Physiotherapy, University of Rzeszów, Poland.

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http://dx.doi.org/10.1159/000117393DOI Listing
July 2008

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Ann Neurol 2008 Apr;63(4):473-81

Department of Pediatrics and Laboratory of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.21328DOI Listing
April 2008

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

J Child Neurol 2008 Feb;23(2):199-204

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany.

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http://dx.doi.org/10.1177/0883073807310989DOI Listing
February 2008

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

Electrophoresis 2007 Dec;28(23):4295-301

Department of Neuropediatrics, Charité University Medical School, Berlin, Germany.

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http://dx.doi.org/10.1002/elps.200700118DOI Listing
December 2007

Improved glucose metabolism in mice lacking alpha-tocopherol transfer protein.

Eur J Nutr 2007 Oct 19;46(7):397-405. Epub 2007 Sep 19.

Dept. of Human Nutrition, Inst. of Nutrition, University of Jena, Dornburger Strasse 29, 07743, Jena, Germany.

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http://dx.doi.org/10.1007/s00394-007-0679-2DOI Listing
October 2007