The gene for Machado–Joseph disease maps to human chromosome 14q

Yoshihisa Takiyama, Masatoyo Nishizawa, Hiroshi Tanaka, +19

Nature Genetics

Chromosome DynamicsHuman Chromosome 14QCytogeneticsGenetic DisorderGenetics +5

The genomic structure and expression of MJD, the Machado-Joseph disease gene

Yaeko Ichikawa, Jun Goto, Masahira Hattori, +12

Journal of Human Genetics

Machado-joseph Disease GeneMolecular Diagnostic TechniquesMendelian DisorderDisease MechanismGenetic Disorder +10

Distal myopathy with rimmed vacuoles: Novel mutations in the <i>GNE</i> gene

Hiroyuki Tomimitsu, Kinya Ishikawa, Junya Shimizu, +3

Neurology

Mendelian DisorderGenetic DisorderGeneticsNovel MutationsDistal Myopathy +12

Distal myopathy with rimmed vacuoles (DMRV)

Hiroyuki Tomimitsu, Junya Shimizu, Kinya Ishikawa, +3

Neurology

Mendelian DisorderVasculitisSkeletal MuscleGenetic DisorderGenetics +12

Mechanism of short-term memory and repetition in conduction aphasia and related cognitive disorders: a neuropsychological, audiological and neuroimaging study

Yasuhisa Sakurai, Sosuke Takeuchi, Emiko Kojima, +7

Journal of the Neurological Sciences

Related Cognitive DisordersCognitive RehabilitationCognitive ScienceNeuropsychologyCognitive Neuroscience +11

Molecular Cloning and Expression of a Third Type of Rabbit GDP-L-Fucose:β-D-Galactoside 2-α-L-Fucosyltransferase

Seiji Hitoshi, Susumu Kusunoki, I. Kanazawa, +1

Journal of Biological Chemistry

Positron-annihilation studies of stable Al-based icosahedral quasicrystals

K. Sato, Yohsuke Takahashi, Hidefumi Uchiyama, +7

Physical review. B, Condensed matter

EngineeringPositron Annihilation SpectroscopySolid-state ChemistryPositron-annihilation LifetimePositron-annihilation Lifetime Spectra +14

Peripheral neuropathy of mitochondrial myopathies.

Hidehiro Mizusawa, Norio Ohkoshi, Masao Watanabe, +1

PubMed

Positron-Annihilation Study of Icosahedral AlPdMn Alloys

I. Kanazawa, E. Hamada, T. Saeki, +4

Physical Review Letters

Materials EngineeringMaterials ScienceAluminium NitrideMaterial AnalysisPositron-annihilation Study +13

Thermoelectric properties of EuZn2Sb2 Zintl compounds: zT enhancement through Yb substitution for Eu

Yoshiki Takagiwa, Yukio Sato, Alexandra Zevalkink, +4

Journal of Alloys and Compounds

Materials ScienceMaterials EngineeringIi-vi SemiconductorTransition Metal ChalcogenidesEngineering +9