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Opsoclonus myoclonus syndrome (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year.
Oculomotor apraxia (OMA) is the absence or defect of controlled, voluntary, and purposeful eye movement. [1] It was first described in 1952 by the American ophthalmologist David Glendenning Cogan . [ 2 ]
The individual essays in this book include: Part One: "The Man Who Mistook His Wife for a Hat", about Dr. P., a singer and music teacher who has visual agnosia.He perceives separate features of objects, but cannot correctly identify them or the whole objects that they are part of.
4854 18131 Ensembl ENSG00000074181 ENSMUSG00000038146 UniProt Q9UM47 Q61982 RefSeq (mRNA) NM_000435 NM_008716 RefSeq (protein) NP_000426 NP_032742 Location (UCSC) Chr 19: 15.16 – 15.2 Mb Chr 17: 32.34 – 32.39 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Neurogenic locus notch homolog protein 3 (Notch 3) is a protein that in humans is encoded by the NOTCH3 gene. Function This ...
69017 Ensembl ENSG00000167371 ENSMUSG00000045114 UniProt Q7Z6L0 E9PUL5 RefSeq (mRNA) NM_001256442 NM_001256443 NM_145239 NM_001102563 RefSeq (protein) NP_001243371 NP_001243372 NP_660282 NP_001096033 Location (UCSC) Chr 16: 29.81 – 29.82 Mb Chr 7: 127.02 – 127.02 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Proline-rich transmembrane protein 2 is a protein that in humans is ...
Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene. [5] [6]MLC1 (also called WKL1 [7] [8]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). [9]
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54138 Ensembl ENSG00000130638 ENSMUSG00000016541 UniProt Q9UBB4 P28658 RefSeq (mRNA) NM_013236 NM_001167621 NM_016843 RefSeq (protein) NP_001161093 NP_037368 NP_058539 Location (UCSC) Chr 22: 45.67 – 45.85 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene. Clinical significance The autosomal dominant cerebellar ...