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Items: 11

  • The following term was not found in MeSH: Shibu.
1.

Machado-Joseph Disease

A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

Year introduced: 1994

2.

Ataxin-3

A deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).

Year introduced: 2016 (1995)

3.

Carbaryl

A carbamate insecticide and parasiticide. It is a potent anticholinesterase agent belonging to the carbamate group of reversible cholinesterase inhibitors. It has a particularly low toxicity from dermal absorption and is used for control of head lice in some countries.

Year introduced: 1992

4.

Sister Mary Joseph's Nodule

Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY.

Year introduced: 2011

5.

Church of Jesus Christ of Latter-day Saints

A group of religious bodies tracing their origin to Joseph Smith in 1830 and accepting the Book of Mormon as divine revelation. (from Merriam-Webster's Collegiate Dictionary, 10th ed)

Year introduced: 2003

6.

Proteus Syndrome

Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

Year introduced: 1992

7.

Fourier Analysis

Analysis based on the mathematical function first formulated by Jean-Baptiste-Joseph Fourier in 1807. The function, known as the Fourier transform, describes the sinusoidal pattern of any fluctuating pattern in the physical world in terms of its amplitude and its phase. It has broad applications in biomedicine, e.g., analysis of the x-ray crystallography data pivotal in identifying the double helical nature of DNA and in analysis of other molecules, including viruses, and the modified back-projection algorithm universally used in computerized tomography imaging, etc. (From Segen, The Dictionary of Modern Medicine, 1992)

Year introduced: 1973

8.

ATXN3L protein, human [Supplementary Concept]

RefSeq NM_001135995

Date introduced: March 23, 2011

9.

Atxn3 protein, mouse [Supplementary Concept]

RefSeq NM_029705

Date introduced: July 7, 2006

10.

Atxn3 protein, rat [Supplementary Concept]

RefSeq NM_021702

Date introduced: July 7, 2006

11.

ATXN3 protein, human [Supplementary Concept]

RefSeq NM_004993

Date introduced: March 31, 1995

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