Work

O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease

Year: 2010

Type: article

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2010.07.266

Authors: L.A. Bindoff, T. Fiskerstrand, D. H’mida-Ben Brahim, S. Johansson, A. M’zahem, B.I. Haukanes, N. Drouot, J. Zimmermann, A.J. Cole, C. Vedeler, C. Bredrup, M. Assoum, M. Tazir, T. Klockgether, A. Hamri, V.M. Steen, H. Boman, M. Koenig, P.M. Knappskog

Institutions: University of Bergen, Haukeland University Hospital, Centre National de la Recherche Scientifique, Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Université de Strasbourg, Centre Hospitalo-Universitaire Dr Benbadis Constantine, University Hospital Bonn, Harvard University, Massachusetts General Hospital, German Center for Neurodegenerative Diseases

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2000940141

FWCI:

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