A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosisYAZAKI, Masahide; FARRELL, Sandra A; BENSON, Merrill D et al.Kidney international. 2003, Vol 63, Num 5, pp 1652-1657, issn 0085-2538, 6 p.Article

Laboratory assessment of transthyretin amyloidosisBENSON, Merrill D; YAZAKI, Masahide; MAGY, Nadine et al.Clinical chemistry and laboratory medicine. 2002, Vol 40, Num 12, pp 1262-1265, issn 1434-6621, 4 p.Conference Paper

A Japanese case of familial mediterranean fever with homozygosity for the pyrin E148Q mutationSUZUKI, Toshiro; NAKAMURA, Akinori; YAZAKI, Masahide et al.Internal medicine (Tokyo. 1992). 2005, Vol 44, Num 7, pp 765-766, issn 0918-2918, 2 p.Article

A japanese patient with familial mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694INAKAMURA, Akinori; YAZAKI, Masahide; TOKUDA, Takahiko et al.Internal medicine (Tokyo. 1992). 2005, Vol 44, Num 3, pp 261-265, issn 0918-2918, 5 p.Article

Contribution of wild-type transthyretin to hereditary peripheral nerve amyloidYAZAKI, Masahide; LIEPNIEKS, Juris J; KINCAID, John C et al.Muscle & nerve. 2003, Vol 28, Num 4, pp 438-442, issn 0148-639X, 5 p.Article

Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II geneYAZAKI, Masahide; LIEPNIEKS, Juris J; YAMASHITA, Taro et al.Kidney international. 2001, Vol 60, Num 5, pp 1658-1665, issn 0085-2538Article

AMYLOIDOGENIC TRANSTHYRETIN Val30Met HOMOZYGOTE SHOWING UNUSUALLY EARLY-ONSET FAMILIAL AMYLOID POLYNEUROPATHYTOJO, Kana; SEKIJIMA, Yoshiki; MACHIDA, Kazuko et al.Muscle & nerve. 2008, Vol 37, Num 6, pp 796-803, issn 0148-639X, 8 p.Article

Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2)YAZAKI, Masahide; TAKEI, Yo-Ichi; KOBAYASHI, Keiko et al.Internal medicine (Tokyo. 1992). 2005, Vol 44, Num 3, pp 188-195, issn 0918-2918, 8 p.Article

Clinical and Genetic Features of Familial Mediterranean Fever in JapanTSUCHIYA-SUZUKI, Ayako; YAZAKI, Masahide; NAKAMURA, Akinori et al.Journal of rheumatology. 2009, Vol 36, Num 8, pp 1671-1676, issn 0315-162X, 6 p.Article

Reactive arthritis due to asymptomatic infection of Chlamydia trachomatisISHII, Wataru; MATSUDA, Masayuki; OKAMOTO, Naoko et al.Internal medicine (Tokyo. 1992). 2005, Vol 44, Num 5, pp 509-510, issn 0918-2918, 2 p.Article

Life-threatening orthostatic hypotension in a case with bulbo-myelo-radiculo-neuropathyISHIKAWA, Shozo; HATTORI, Takeshi; TAKEI, Yo-Ichi et al.Autonomic neuroscience : basic & clinical. 2001, Vol 94, Num 1-2, pp 125-131, issn 1566-0702Article

Neuroserpin mutation S52R causes Neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsyTAKAO, Masaki; BENSON, Merrill D; FARLOW, Martin R et al.Journal of neuropathology and experimental neurology. 2000, Vol 59, Num 12, pp 1070-1086, issn 0022-3069Article

AH amyloidosis associated with lymphoplasmacytic lymphoma secreting a monoclonal γ heavy chain carrying an unusual truncated D segmentGONO, Takahisa; YAZAKI, Masahide; HOSHII, Yoshinobu et al.American journal of kidney diseases. 2006, Vol 47, Num 5, pp 908-914, issn 0272-6386, 7 p.Article

Characteristic spinal MRI findings of HIV-associated myelopathy in an AIDS patientSHIMOJIMA, Yoshio; YAZAKI, Masahide; KANEKO, Kazuma et al.Internal medicine (Tokyo. 1992). 2005, Vol 44, Num 7, pp 763-764, issn 0918-2918, 2 p.Article

Nonparaneoplastic, nonherpetic limbic encephalitis with severe episodic hypothermia : A case reportFUKUSHIMA, Kazuhiro; YAZAKI, Masahide; KANEKO, Kazuma et al.European neurology. 2005, Vol 54, Num 3, pp 170-174, issn 0014-3022, 5 p.Article

PRIMARY AL AMYLOID POLYNEUROPATHY SUCCESSFULLY TREATED WITH HIGH-DOSE MELPHALAN FOLLOWED BY AUTOLOGOUS STEM CELL TRANSPLANTATIONKATOH, Nagaaki; MATSUDA, Masayuki; YOSHIDA, Takuhiro et al.Muscle & nerve. 2010, Vol 41, Num 1, pp 138-143, issn 0148-639X, 6 p.Article

Primary Liver Carcinoma Exhibiting Dual Hepatocellular-Biliary Epithelial Differentiations Associated With Citrin Deficiency : A Case ReportSOEDA, Junpei; YAZAKI, Masahide; MIYAGAWA, Shin-Ichi et al.Journal of clinical gastroenterology. 2008, Vol 42, Num 7, pp 855-860, issn 0192-0790, 6 p.Article

An autopsy case with adult onset type II citrullinemia showing myelopathyTAZAWA, Ko-Ichi; SHIMOJIMA, Yasuhiro; OKANO, Tomomi et al.Journal of the neurological sciences. 2007, Vol 253, Num 1-2, pp 77-80, issn 0022-510X, 4 p.Article

Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosisYOSHIDA, Takuhiro; YAZAKI, Masahide; GONO, Takahisa et al.Journal of the neurological sciences. 2006, Vol 244, Num 1-2, pp 167-171, issn 0022-510X, 5 p.Article

The Characteristics of Food Intake in Patients with Type II CitrullinemiaNAKAMURA, Mio; YAZAKI, Masahide; KOBAYASHI, Yumiko et al.Journal of nutritional science and vitaminology. 2011, Vol 57, Num 3, pp 239-245, issn 0301-4800, 7 p.Article

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver diseaseKOMATSU, Michiharu; YAZAKI, Masahide; AOYAMA, Toshifumi et al.Journal of hepatology. 2008, Vol 49, Num 5, pp 810-820, issn 0168-8278, 11 p.Article

Paraneoplastic sensorimotor neuropathy and encephalopathy associated with anti-α-enolase antibody in a case of gastric adenocarcinomaTOJO, Kana; TOKUDA, Takahiko; IKEDA, Shu-Ichi et al.European neurology. 2004, Vol 51, Num 4, pp 231-233, issn 0014-3022, 3 p.Article

Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25YAZAKI, Masahide; YAMASHITA, Taro; KINCAID, John C et al.Muscle & nerve. 2002, Vol 25, Num 2, pp 244-250, issn 0148-639XArticle

A new human hereditary amyloidosis : The result of a stop-codon mutation in the apolipoprotein AII geneBENSON, Merrill D; LIEPNIEKS, Juris J; YAZAKI, Masahide et al.Genomics (San Diego, Calif.). 2001, Vol 72, Num 3, pp 272-277, issn 0888-7543Article

Biochemical characterization of a neuroserpin variant associated with hereditary dementiaYAZAKI, Masahide; LIEPNIEKS, Juris J; MURRELL, Jill R et al.The American journal of pathology. 2001, Vol 158, Num 1, pp 227-233, issn 0002-9440Article