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HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 06/2013, Volume 22, Issue 12, pp. 2510 - 2519
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although 10 of probands have at... 
PRIMARY CERVICAL DYSTONIA | CHROMOSOME 18P | GERMANY | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FOCAL DYSTONIA | PRIMARY TORSION DYSTONIA | MUTATIONS | HISTONE H3 PHOSPHORYLATION | EXPRESSION | DELETION
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/1998, Volume 95, Issue 3, pp. 1207 - 1212
Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological... 
Epithelial cells | Lysosomes | Antibodies | Biopsies | Cell membranes | Achlorhydria | Gastric parietal cells | Gastric juice | Animal cells | Cells | PAIN | MULTIDISCIPLINARY SCIENCES | CULTURED SKIN FIBROBLASTS | SECRETORY FUNCTION | NATURAL-HISTORY | CHILDREN | BASAL | Physiological aspects | Gastrin
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2016
Abstract Hallucinations and psychosis can be a part of Parkinson ' s disease and are considered to be a nonmotor symptom or a neuropsychiatric complication of... 
Neurology
Journal Article
05/2016, ISBN 1118777360, 7
This chapter attempts to describe the basics of genetics using selective neurological diseases as examples. Mutations can produce no change in the protein or... 
von hippel‐lindau disease | neurological diseases | genetics | nonsense suppression therapy | gene therapy | xeroderma pigmentosum | incontinentia pigmenti | neurofibromatosis | Sturge‐Weber syndrome
Book Chapter
Book Chapter
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/1998, Volume 95, Issue 3, pp. 1207 - 1212
Journal Article
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