Holger Hengel

Holger Hengel

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Holger Hengel

Holger Hengel

Publications by authors named "Holger Hengel"

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Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).

J Neurol 2020 Feb 23;267(2):369-379. Epub 2019 Oct 23.

Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00415-019-09573-wDOI Listing
February 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 Jan 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

A previously identified missense mutation in STYXL1 is likely benign.

Eur J Med Genet 2019 Nov 22;62(11):103582. Epub 2018 Nov 22.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.11.016DOI Listing
November 2019

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Orphanet J Rare Dis 2018 11 3;13(1):194. Epub 2018 Nov 3.

Center for Neurology, and Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0939-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215661PMC
November 2018

Serum neurofilament light chain is increased in hereditary spastic paraplegias.

Ann Clin Transl Neurol 2018 Jul 21;5(7):876-882. Epub 2018 May 21.

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

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http://dx.doi.org/10.1002/acn3.583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043776PMC
July 2018

mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Neurol Genet 2017 Apr 22;3(2):e144. Epub 2017 Mar 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.

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http://dx.doi.org/10.1212/NXG.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363873PMC
April 2017

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Mov Disord 2016 12 26;31(12):1891-1900. Epub 2016 Oct 26.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, Tübingen, Germany.

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http://dx.doi.org/10.1002/mds.26835DOI Listing
December 2016

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.

J Med Case Rep 2016 Mar 29;10:67. Epub 2016 Mar 29.

Child Neurology and Development Center, Hillel-Yaffe Medical Center, 38100, Hadera, Israel.

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http://dx.doi.org/10.1186/s13256-016-0854-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810572PMC
March 2016