The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Life Sciences, Genetics, Molecular Genetics +17

The Biological and Chemical Basis for Tissue-Selective Amyloid Disease

Yoshiki Sekijima, R. Luke Wiseman, Jeanne Matteson et al. · Cell · 2005 · 494 citations · Full text

Life Sciences, Biochemistry, Neuroscience +14

Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)

Satoru Tawara, Masamitsu Nakazato, Kenji Kangawa et al. · Biochemical and Biophysical Research Communications · 1983 · 365 citations

Medicine, Neurology, Pathology +14

Transthyretin amyloidosis: A new mutation associated with dementia

Robert B. Petersen, Hershel Goren, Michael Cohen et al. · Annals of Neurology · 1997 · 139 citations · Full text

Medicine, Neurology, Neuroscience +14

CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings

Luı́s F. Maia, Rui Magalhães, J. Freitas et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 128 citations

Life Sciences, Neurology, Neuroscience +13