Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]
Eur J NeurolKodal LS, Duno M, Dysgaard T.
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Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female. [PDF]
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Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration. [PDF]
Amino AcidsAynaashe A, Kursula P.
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Allgrove syndrome with early neurodegeneration in a child: A case report from Syria. [PDF]
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Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease [PDF]
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Introducing a revised version of the Kumamoto scale as an easy-to-use clinical tool for monitoring multisystemic changes in hereditary transthyretin amyloidosis. [PDF]
Orphanet J Rare DisWixner J +6 more
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Hereditary sensory and autonomic neuropathy type IV.
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Neurological Examinations of Patients Initially Diagnosed With Wild-Type Transthyretin Amyloidosis (wtATTR). [PDF]
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新規プリオン遺伝子変異「コドン178の2塩基欠失」により引き起こされる「PrP systemic deposition病」の臨床及び病理学的な特徴 [PDF]
, 2017 Matsuzono, Kosuke
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Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil. [PDF]
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