Publications by authors named "Saskia Biskup"

100Publications

Depatux-M and temozolomide in advanced high-grade glioma.

Neurooncol Adv 2020 Jan-Dec;2(1):vdaa063. Epub 2020 Jun 6.

Department of Neurology and Interdisciplinary Neuro-Oncology, University Hospital Tübingen, Eberhard Karls University Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1093/noajnl/vdaa063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7367419PMC
June 2020

Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency.

Neurology 2020 Jul 26;95(3):e332-e334. Epub 2020 Jun 26.

From the Department of Neurology (T.M., A.A.K., C.G.), Charité University Medicine Berlin; Berlin Institute of Health (T.M.); and Center for Genomics and Transcriptomics (J.H., S.B.), Tübingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000009901DOI Listing
July 2020

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

Eur J Med Genet 2020 Jun 24;63(9):103992. Epub 2020 Jun 24.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103992DOI Listing
June 2020

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation.

Mov Disord Clin Pract 2020 May 3;7(4):453-455. Epub 2020 Apr 3.

Department of Neurology Charité University Medicine Berlin Berlin Germany.

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http://dx.doi.org/10.1002/mdc3.12931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197318PMC
May 2020

Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?

Cancers (Basel) 2020 Apr 28;12(5). Epub 2020 Apr 28.

Center for Dermatooncology, Department of Dermatology, University Hospital Tuebingen, Eberhard Karls University, 72076 Tuebingen, Germany.

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http://dx.doi.org/10.3390/cancers12051101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281129PMC
April 2020

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Gene 2020 Jul 25;749:144709. Epub 2020 Apr 25.

Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.

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http://dx.doi.org/10.1016/j.gene.2020.144709DOI Listing
July 2020

Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy.

Epileptic Disord 2020 Feb;22(1):116-119

Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster.

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http://dx.doi.org/10.1684/epd.2020.1140DOI Listing
February 2020

Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Mol Syndromol 2020 Jan 10;10(6):313-319. Epub 2019 Dec 10.

Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.

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http://dx.doi.org/10.1159/000504818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995945PMC
January 2020

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

J Clin Neurosci 2020 Feb 17;72:31-38. Epub 2020 Jan 17.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig-Maximilian-University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, Germany; Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2020.01.041DOI Listing
February 2020

Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.

Hum Genet 2020 Feb 30;139(2):137-149. Epub 2019 Nov 30.

Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.

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http://dx.doi.org/10.1007/s00439-019-02093-7DOI Listing
February 2020

Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects.

Neurobiol Aging 2019 12 20;84:241.e5-241.e11. Epub 2019 Sep 20.

Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.08.034DOI Listing
December 2019

IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures.

Parkinsonism Relat Disord 2019 11 17;68:57-59. Epub 2019 Sep 17.

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.020DOI Listing
November 2019

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

Acta Ophthalmol 2020 May 3;98(3):e316-e321. Epub 2019 Oct 3.

Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1111/aos.14255DOI Listing
May 2020

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Mol Biol Rep 2019 Aug 3;46(4):4507-4516. Epub 2019 Jul 3.

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129, Oldenburg, Germany.

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http://dx.doi.org/10.1007/s11033-019-04906-4DOI Listing
August 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

Neuromolecular Med 2019 06 6;21(2):182-191. Epub 2019 Apr 6.

Institute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Wagistrasse 14 Schlieren, 8952, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s12017-019-08534-wDOI Listing
June 2019

The Parkinson's disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.

Sci Rep 2019 03 14;9(1):4515. Epub 2019 Mar 14.

Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University Clinic Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1038/s41598-019-40808-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418296PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Acta Myol 2018 Sep 1;37(3):193-203. Epub 2018 Sep 1.

Division of Neurophysiology, Ulm University, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390110PMC
September 2018

Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.

Brain Pathol 2019 05 1;29(3):321-324. Epub 2019 Feb 1.

Center for CNS Tumors, Comprehensive Cancer Center Tuebingen-Stuttgart, University Hospital of Tuebingen, Eberhard Karls University of Tuebingen, Tuebingen, Germany.

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http://doi.wiley.com/10.1111/bpa.12709
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http://dx.doi.org/10.1111/bpa.12709DOI Listing
May 2019

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Graefes Arch Clin Exp Ophthalmol 2019 Mar 17;257(3):629-638. Epub 2019 Jan 17.

Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard Karls University Tuebingen, Tuebingen, Germany.

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http://link.springer.com/10.1007/s00417-018-04233-7
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http://dx.doi.org/10.1007/s00417-018-04233-7DOI Listing
March 2019

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

JIMD Rep 2019 20;45:99-104. Epub 2018 Dec 20.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://link.springer.com/10.1007/8904_2018_148
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http://dx.doi.org/10.1007/8904_2018_148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336674PMC
December 2018

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 11 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Parkinsonism Relat Disord 2019 03 29;60:176-178. Epub 2018 Sep 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tuebingen, Tuebingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tuebingen, Tuebingen, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183042
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http://dx.doi.org/10.1016/j.parkreldis.2018.09.031DOI Listing
March 2019

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Invest Ophthalmol Vis Sci 2018 06;59(7):3041-3052

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.18-24033DOI Listing
June 2018

McArdle's disease: A differential diagnosis of idiopathic toe walking.

J Orthop 2018 Jun 8;15(2):685-689. Epub 2018 May 8.

Praxis f. Humangenetik Tübingen, Paul-Ehrlich-Str. 23, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1016/j.jor.2018.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990294PMC
June 2018

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Clin Case Rep 2018 02 17;6(2):420-425. Epub 2018 Jan 17.

Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.

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http://dx.doi.org/10.1002/ccr3.1368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658PMC
February 2018

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

J Neurol 2018 Feb 19;265(2):388-393. Epub 2017 Dec 19.

Department of Neurology with Friedrich-Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-017-8711-9DOI Listing
February 2018

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.

Cephalalgia 2018 07 16;38(8):1503-1508. Epub 2017 Nov 16.

1 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1177/0333102417742365DOI Listing
July 2018

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Neurobiol Aging 2018 02 24;62:244.e9-244.e13. Epub 2017 Oct 24.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.10.010DOI Listing
February 2018

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Hum Mutat 2018 02 27;39(2):193-196. Epub 2017 Nov 27.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1002/humu.23369DOI Listing
February 2018

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of .

Tremor Other Hyperkinet Mov (N Y) 2017 8;7:465. Epub 2017 Aug 8.

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.

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http://dx.doi.org/10.7916/D8251WB0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753PMC
March 2018

The role of genetic testing in epilepsy diagnosis and management.

Expert Rev Mol Diagn 2017 08 26;17(8):739-750. Epub 2017 Jun 26.

a Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research , University of Tübingen , Tubingen , Germany.

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http://dx.doi.org/10.1080/14737159.2017.1335598DOI Listing
August 2017

Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key.

Neurol Sci 2017 08 19;38(8):1525-1527. Epub 2017 Apr 19.

Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1007/s10072-017-2960-3DOI Listing
August 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

J Neurol 2017 Mar 4;264(3):578-582. Epub 2017 Jan 4.

Department of Neurology, Friedrich-Baur-Institute, University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-016-8387-6DOI Listing
March 2017

Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformationss.

Swiss Med Wkly 2016 12;146:w14361. Epub 2016 Nov 12.

Department of Neurology, University of Rostock and German Centre for Neurodegenerative Diseases/ DZNE, Rostock, Germany.

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http://dx.doi.org/10.4414/smw.2016.14361DOI Listing
September 2017

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Muscle Nerve 2017 08 23;56(2):334-340. Epub 2017 Feb 23.

Friedrich-Baur Institut, Department of Neurology, Ludwig-Maximilian University, Ziemssenstrasse 1a, 80336, Munich, Germany.

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http://dx.doi.org/10.1002/mus.25485DOI Listing
August 2017

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Front Mol Neurosci 2016 13;9:92. Epub 2016 Oct 13.

CeGaT GmbH, Center for Genomics and TranscriptomicsTübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of TübingenTübingen, Germany.

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http://dx.doi.org/10.3389/fnmol.2016.00092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061735PMC
October 2016

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Mitochondrion 2017 09 6;36:15-20. Epub 2016 Oct 6.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany; DZNE-German Center for Neurodegenerative Diseases, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.002DOI Listing
September 2017

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

J Pediatr 2016 12 15;179:144-149.e2. Epub 2016 Sep 15.

Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.

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http://dx.doi.org/10.1016/j.jpeds.2016.08.043DOI Listing
December 2016

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

Am J Med Genet A 2016 12 14;170(12):3319-3322. Epub 2016 Sep 14.

Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Albert-Schweitzer-Campus 1, Münster, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37950DOI Listing
December 2016

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

J Inherit Metab Dis 2016 11 29;39(6):849-857. Epub 2016 Jul 29.

Department of Neuropediatrics and Neurometabolic Laboratory, Children's Hospital of the University of Tübingen, Hoppe-Seyler-Str. 1, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10545-016-9961-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065605PMC
November 2016

Early-onset parkinsonism due to compound heterozygous POLG mutations.

Parkinsonism Relat Disord 2016 08 27;29:135-7. Epub 2016 Apr 27.

Dept of Neurology, University Hospital of Schleswig-Holstein, Campus Kiel, Arnold-Heller-Strasse 3, Haus 41, 24105 Kiel, Germany; Dept of Neurology, University Hospital of Cologne, Kerpener Strasse 62, 50937 Cologne, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2016.04.020DOI Listing
August 2016

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.

J Neurol 2016 Mar 25;263(3):558-74. Epub 2016 Jan 25.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00415-016-8021-7DOI Listing
March 2016

Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.

BMC Neurol 2015 Jul 4;15:103. Epub 2015 Jul 4.

Dr. Senckenberg Institute of Neurooncology, University Hospital Frankfurt, Goethe University, Schleusenweg 2-16, 60528, Frankfurt, Germany.

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http://dx.doi.org/10.1186/s12883-015-0368-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491230PMC
July 2015

Clinical variability in ataxia-telangiectasia.

J Neurol 2015 Jul 10;262(7):1724-7. Epub 2015 May 10.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany,

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http://dx.doi.org/10.1007/s00415-015-7762-zDOI Listing
July 2015

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

J Neurol 2015 11;262(4):1072-3. Epub 2015 Apr 11.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336, Munich, Germany,

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http://dx.doi.org/10.1007/s00415-015-7729-0DOI Listing
January 2016

A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Brain 2015 Sep 12;138(Pt 9):e376. Epub 2015 Feb 12.

1 Department of Neurology, University of Bonn, Bonn, Germany 2 German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany

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http://dx.doi.org/10.1093/brain/awv014DOI Listing
September 2015

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

Neuropediatrics 2015 Apr 2;46(2):134-8. Epub 2015 Feb 2.

Pediatric Neurology Unit, Department of Pediatrics, Hospital S. João, Porto, Portugal.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0034-1399754
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http://dx.doi.org/10.1055/s-0034-1399754DOI Listing
April 2015

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

Front Physiol 2014 15;5:525. Epub 2015 Jan 15.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany ; German Network for Mitochondrial Disorders (mitoNET) Ludwigshafen, Germany ; DZNE - German Center for Neurodegenerative Diseases Munich, Germany ; German Center for Vertigo and Balance Disorders Munich, Germany.

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http://dx.doi.org/10.3389/fphys.2014.00525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295438PMC
February 2015

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

Mitochondrion 2015 Mar 10;21:12-8. Epub 2015 Jan 10.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2015.01.001DOI Listing
March 2015

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

J Neurol 2015 Mar 9;262(3):768-70. Epub 2015 Jan 9.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-015-7636-4DOI Listing
March 2015

Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.

Clin Neurol Neurosurg 2015 Jan 6;128:44-6. Epub 2014 Nov 6.

Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.

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https://linkinghub.elsevier.com/retrieve/pii/S03038467140042
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http://dx.doi.org/10.1016/j.clineuro.2014.10.024DOI Listing
January 2015