Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL

Neurology

Volumn 86, Issue 21, 2016, Pages 1964-1974

  Nozaki, Hiroaki ^a   Kato, Taisuke ^b   Nihonmatsu, Megumi ^b   Saito, Yohei ^b   Mizuta, Ikuko ^c   Noda, Tomoko ^d   Koike, Ryoko ^e   Miyazaki, Kazuhide ^f   Kaito, Muichi ^g   Ito, Shoichi ^h   Makino, Masahiro ⁱ   Koyama, Akihide ^b   Shiga, Atsushi ^b   Uemura, Masahiro ^b   Sekine, Yumi ^b   Murakami, Ayuka ^j   Moritani, Suzuko ^j   Hara, Kenju ^k   Yokoseki, Akio ^b   Kuwano, Ryozo ^a   Endo, Naoto ^a   Momotsu, Takeshi ^l   Yoshida, Mari ^m   Nishizawa, Masatoyo ^b   Mizuno, Toshiki ^c   Onodera, Osamu ^b   more..

^a NIIGATA UNIVERSITY   (Japan)

^b Niigata University   (Japan)

^c KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^d Ichinomiya Municipal Hospital   (Japan)

^e NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^f Shiseikai Daini Hospital   (Japan)

^g KANAZAWA MEDICAL UNIVERSITY   (Japan)

^h CHIBA UNIVERSITY   (Japan)

ⁱ NANTAN GENERAL HOSPITAL   (Japan)

^j NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^k AKITA RED CROSS HOSPITAL   (Japan)

^l Sado General Hospital   (Japan)

^m AICHI MEDICAL UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; HIGH TEMPERATURE REQUIREMENT SERINE PEPTIDASE A1; NOTCH3 RECEPTOR; RNA; SERINE PROTEINASE; UNCLASSIFIED DRUG; HTRA1 PROTEIN, HUMAN;

ADULT; AGED; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN INFARCTION; CEREBRAL ARTERY DISEASE; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CLINICAL FEATURE; COGNITIVE DEFECT; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GEL FILTRATION CHROMATOGRAPHY; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LEUKOARAIOSIS; LEUKOENCEPHALOPATHY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; SPONDYLOSIS; BRAIN; DIAGNOSTIC IMAGING; DIMERIZATION; DNA SEQUENCE; ENZYMOLOGY; FAMILY; GENETICS; HETEROZYGOTE; METABOLISM; MOLECULAR MODEL; PATHOLOGY; PEDIGREE; SIZE EXCLUSION CHROMATOGRAPHY; SPINE DISEASE;

ALOPECIA; BRAIN; CEREBRAL INFARCTION; CHROMATOGRAPHY, GEL; DIMERIZATION; FAMILY; HETEROZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES; SPINAL DISEASES;

EID: 84970045567     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002694     Document Type: Article

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