Morbus Charcot Marie Tooth (CMT) ist die Sammelbezeichnung für eine Gruppe von genetische progrediente motorisch- sensible Neuropathien. In CMT1A, die häufigste Subtyp, ist das verantwortliche Defekt in über 90% der Fälle die Duplikation des Gens für das
Van Cauwenberge, M.G.A. (Margot)
core
NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features. [PDF]
Giachin, G +3 more
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Targeted biopsy of the ulnar nerve for amyloidosis with potential implications of a diagnostic and nondiagnostic biopsy: illustrative case. [PDF]
O'Driscoll CJL, Dyck PJB, Spinner RJ.
europepmc +1 more source
The Role of Skin Innervation for Assessment of Neurological Involvement in Disorders: A Review. [PDF]
Furia A +6 more
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Monoclonal-related neuropathies: diagnosis, prognosis, and outcomes. [PDF]
Jaccard A +4 more
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A structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice. [PDF]
Lefaucheur JP, Gendre T, Sène D.
europepmc +1 more source
A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia. [PDF]
Bamaga AK, Alyazidi AS, Alali FK.
europepmc +1 more source
Polyneuropathy in Wild-Type Transthyretin Amyloidosis. [PDF]
Sciarrone MA +14 more
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Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis. [PDF]
Singh A +7 more
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