Publications by authors named "Alexander E Volk"

46Publications

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

BMC Gastroenterol 2020 May 3;20(1):129. Epub 2020 May 3.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1186/s12876-020-01283-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197118PMC
May 2020

Phenotype in an Infant with Homozygous Truncating Mutation.

N Engl J Med 2019 08 17;381(5):486-488. Epub 2019 Jul 17.

University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1905039DOI Listing
August 2019

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.

Med Genet 2018 13;30(2):252-258. Epub 2018 Jul 13.

1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1007/s11825-018-0185-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132774PMC
July 2018

Serum neurofilament light chain in behavioral variant frontotemporal dementia.

Neurology 2018 10 12;91(15):e1390-e1401. Epub 2018 Sep 12.

From the Department of Neurology (P.S., S.A.-S., E.S., I.U., C.A.F.v.A., J. Kassubek, B.L., P.O., A.C.L., M.O.) and Institute of Epidemiology and Medical Biometry (B.M.), University of Ulm; Department of Psychiatry and Psychotherapy (J.D.-S., H.F., T.G.), Klinikum Rechts der Isar, Technical University of Munich; Department of Nuclear Medicine (H.B.), Leipzig University Hospital; Department of Neurology (A.D.), Ludwig-Maximilians-University, Munich; Department of Neurology (K.F.), Saarland University, Homburg; Department of Psychiatry and Psychotherapy (K.F.), University of Bonn, Germany; Swiss Epilepsy Center (H.-J.H.), Zurich, Switzerland; Department of Psychiatry and Psychotherapy (H.J.), University Medical Center Hamburg-Eppendorf, Hamburg; AMEOS Klinikum (H.J.), Heiligenhafen; Department of Psychiatry and Psychotherapy (J. Kornhuber, J.M.M.), Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen; Department of Psychiatry and Psychotherapy (M.L.), University of Würzburg; Department of Neurology (J.P.), University of Rostock; DZNE (J.P.), Rostock; Department of Neurodegenerative Diseases and Geriatric Psychiatry (A.S.), University Hospital Bonn; DZNE (A.S.), Bonn; Institute of Human Genetics (A.E.V.), University Medical Center Hamburg-Eppendorf, Hamburg; Department of Psychiatry and Psychotherapy (J.W.), University Medical Center Göttingen; DZNE (J.W.), Göttingen, Germany; iBiMED (J.W.), Medical Sciences Department, University of Aveiro, Portugal; Clinic for Cognitive Neurology (M.L.S.), University Clinic Leipzig; and Max Planck Institute for Human Cognitive and Brain Sciences (M.L.S.), Leipzig, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006318DOI Listing
October 2018

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases.

Curr Opin Neurol 2017 10;30(5):523-528

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1097/WCO.0000000000000478DOI Listing
October 2017

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

Audiol Neurootol 2017 10;22(1):30-40. Epub 2017 Jun 10.

Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1159/000474929DOI Listing
September 2018

Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias.

Neurology 2017 Mar 8;88(10):961-969. Epub 2017 Feb 8.

From the Department of Neurology (P.S., E.S., S.A.-S., I.U., B.L., C.A.F.v.A., J. Kassubek, P.O., A.C.L., M.O.), University of Ulm; Department of Psychiatry and Psychotherapy (J.D.-S., H.F., C.R.), Technical University of Munich; Clinic for Cognitive Neurology (M.L.S.), University Clinic Leipzig and Max Planck Institute for Human Cognitive and Brain Sciences, Germany; Swiss Epilepsy Center (H.-J.H.), Zürich, Switzerland; Department of Neurology (K. Fassbender), Saarland University, Homburg; Department of Psychiatry and Psychotherapy (K. Fliessbach), University of Bonn and DZNE; Department of Neurology (J.P.), University of Rostock and German Center for Neurodegenerative Diseases; Department of Psychiatry and Psychotherapy (J. Kornhuber), Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen; Department of Psychiatry and Psychotherapy (A.S.), University of Göttingen; Institute of Human Genetics (A.E.V.), University Medical Center Hamburg-Eppendorf, Hamburg; Department of Psychiatry and Psychotherapy (M.L.), University of Würzburg; and Department of Neurology (A.D.), Ludwig-Maximilians-University Munich, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003688DOI Listing
March 2017

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

Neurobiol Aging 2015 Nov 15;36(11):3117.e1-3117.e6. Epub 2015 Aug 15.

Institute of Human Genetics, University of Ulm, Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.005DOI Listing
November 2015

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

J Neurol Sci 2014 Dec 2;347(1-2):352-5. Epub 2014 Oct 2.

Institute of Human Genetics, University of Ulm, Albert-Einstein Allee 11, 89081 Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.09.046DOI Listing
December 2014

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

J Neurol 2014 Feb 20;261(2):283-90. Epub 2013 Nov 20.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00415-013-7185-7DOI Listing
February 2014

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Hum Genet 2011 Jan 22;129(1):45-50. Epub 2010 Oct 22.

Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://dx.doi.org/10.1007/s00439-010-0896-2DOI Listing
January 2011

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

Graefes Arch Clin Exp Ophthalmol 2010 Sep 10;248(9):1351-7. Epub 2010 Jun 10.

Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1007/s00417-010-1417-7DOI Listing
September 2010

Case report of a child with otoacoustic emissions and profound hearing loss in whom otoacoustic emissions were preserved after cochlear implantation.

Cochlear Implants Int 2009 Sep;10(3):174-7

Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Kerpener Strasse 62, Cologne 50937, Germany.

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http://www.tandfonline.com/doi/full/10.1179/cim.2009.10.3.17
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http://dx.doi.org/10.1179/cim.2009.10.3.174DOI Listing
September 2009