Saskia Biskup

Saskia Biskup

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Saskia Biskup

Publications by authors named "Saskia Biskup"

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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

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

Neuromolecular Med 2019 Jun 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

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. 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
June 2019

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

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

Parkinsonism Relat Disord 2019 Mar 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

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

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

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

Sci Rep 2019 Mar 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Eur J Hum Genet 2015 Mar 18;23(3):409-12. Epub 2014 Jun 18.

1] Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany [2] CeGaT GmbH, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326712PMC
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

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 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

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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http://dx.doi.org/10.1016/j.clineuro.2014.10.024DOI Listing
January 2015

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

J Neurol 2014 Dec 20;261(12):2351-9. Epub 2014 Sep 20.

Department of Diagnostic and Interventional Neuroradiology, MR Research Group, University Hospital Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany,

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http://dx.doi.org/10.1007/s00415-014-7509-2DOI Listing
December 2014

Severe familial paroxysmal exercise-induced dyskinesia.

J Neurol 2014 Oct 7;261(10):2009-15. Epub 2014 Aug 7.

Movement Disorders Section, Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany,

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http://dx.doi.org/10.1007/s00415-014-7441-5DOI Listing
October 2014

Further delineation of the SATB2 phenotype.

Eur J Hum Genet 2014 Aug 4;22(8):1034-9. Epub 2013 Dec 4.

Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350596PMC
August 2014

MED12 overexpression is a frequent event in castration-resistant prostate cancer.

Endocr Relat Cancer 2014 Aug 17;21(4):663-75. Epub 2014 Jun 17.

Department of Prostate Cancer ResearchInstitute of PathologyUniversity Hospital of Bonn, Sigmund-Freud Strasse 25, 53127 Bonn, GermanyInstitute for PathologyUniversity Hospital Basel, Basel, SwitzerlandDepartment of UrologySt. Claraspital, Basel, SwitzerlandDepartment of UrologyUniversity Hospital Basel, Basel, SwitzerlandDepartment of UrologyUniversity Hospital of Örebro, Örebro, SwedenSchool of Health and Medical SciencesÖrebro University, Örebro, SwedenCenter for Genomics and TranscriptomicsCeGaT GmbH, Tuebingen, GermanyClinic for Urology and Pediatric UrologyUniversity Hospital of Bonn, Sigmund-Freud Strasse 25, 53127 Bonn, GermanySection of Molecular UrooncologyDepartment of Urology, School of Medicine, University of Heidelberg, Heidelberg, GermanyDepartment of Prostate Cancer ResearchInstitute of PathologyUniversity Hospital of Bonn, Sigmund-Freud Strasse 25, 53127 Bonn, GermanyInstitute for PathologyUniversity Hospital Basel, Basel, SwitzerlandDepartment of UrologySt. Claraspital, Basel, SwitzerlandDepartment of UrologyUniversity Hospital Basel, Basel, SwitzerlandDepartment of UrologyUniversity Hospital of Örebro, Örebro, SwedenSchool of Health and Medical SciencesÖrebro University, Örebro, SwedenCenter for Genomics and TranscriptomicsCeGaT GmbH, Tuebingen, GermanyClinic for Urology and Pediatric UrologyUniversity Hospital of Bonn, Sigmund-Freud Strasse 25, 53127 Bonn, GermanySection of Molecular UrooncologyDepartment of Urology, School of Medicine, University of Heidelberg, Heidelberg, Germany

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http://dx.doi.org/10.1530/ERC-14-0171DOI Listing
August 2014

MED15, encoding a subunit of the mediator complex, is overexpressed at high frequency in castration-resistant prostate cancer.

Int J Cancer 2014 Jul 9;135(1):19-26. Epub 2013 Dec 9.

Department of Prostate Cancer Research, University Hospital of Bonn, Bonn, Germany; Institute of Pathology, University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/ijc.28647DOI Listing
July 2014

Unusual variability of PRRT2 linked phenotypes within a family.

Eur J Paediatr Neurol 2014 Jul 8;18(4):540-2. Epub 2014 Apr 8.

Epilepsiezentrum am Evangelischen Krankenhaus Alsterdorf, Hamburg, Germany; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.03.012DOI Listing
July 2014

Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation.

Clin Neurol Neurosurg 2014 Jul 4;122:113-5. Epub 2014 May 4.

Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany; German Research Center for Neurodegenerative Diseases (DZNE), Ludwig-Maximilians-Universität, Munich, Germany.

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http://dx.doi.org/10.1016/j.clineuro.2014.04.022DOI Listing
July 2014

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.

BMC Neurol 2014 Jun 3;14:118. Epub 2014 Jun 3.

Department of Neurology and Hertie Institute for Clinical Brain Research, Hoppe-Seyler-Str, 3, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1186/1471-2377-14-118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060843PMC
June 2014

Multiple metachronous osteosarcomas in a patient with Li-Fraumeni syndrome.

Pediatr Hematol Oncol 2014 May 25;31(4):359-61. Epub 2013 Nov 25.

1 Pediatrics 5 (Oncology, Hematology, Immunology; Gastroenterology, Rheumatology, General Pediatrics), Klinikum Stuttgart -Olgahospital, Germany.

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http://dx.doi.org/10.3109/08880018.2013.848388DOI Listing
May 2014

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

Neurobiol Aging 2014 May 29;35(5):1212.e1-5. Epub 2013 Oct 29.

Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Bavaria, Germany.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.10.092DOI Listing
May 2014

Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily.

Hum Mol Genet 2014 Apr 26;23(8):2055-77. Epub 2013 Nov 26.

Brain Mind Institute, School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne 1015, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddt600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959816PMC
April 2014

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

Parkinsonism Relat Disord 2014 Mar 27;20(3):328-31. Epub 2013 Nov 27.

Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2013.11.011DOI Listing
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

J Neurol 2014 Feb 24;261(2):435-7. Epub 2013 Dec 24.

Service de Neurologie, CHU de Strasbourg, Hôpital de Hautepierre, 1, Avenue Molière, 67098, Strasbourg Cedex, France,

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http://link.springer.com/content/pdf/10.1007/s00415-013-7216
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http://link.springer.com/10.1007/s00415-013-7216-4
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http://dx.doi.org/10.1007/s00415-013-7216-4DOI Listing
February 2014

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Am J Med Genet A 2014 Jan 22;164A(1):42-7. Epub 2013 Nov 22.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo"-Trieste, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36165
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http://dx.doi.org/10.1002/ajmg.a.36165DOI Listing
January 2014

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Neurology 2013 Dec 6;81(23):2039-44. Epub 2013 Nov 6.

From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.

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http://www.neurology.org/cgi/doi/10.1212/01.wnl.0000436945.0
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http://dx.doi.org/10.1212/01.wnl.0000436945.01023.acDOI Listing
December 2013