Human head and neck Hereditary spastic paraplegia

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Pure or complex; Silver-syndrome, allelic with hereditary sensory neuropathy type 1, cerebral palsy. Hereditary spastic paraplegia
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Name: Date of BirthName: Date of Birth
Hereditary spastic paraplegia
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  attn:  , md      ,     re:   dob:    attn:  , md      ,     re:   dob:  
Hereditary Spastic Paraplegia (hsp), Complete Dominant Evaluation. I have determined that this test is medically necessary because of the following aspects of my patient’s history. Hereditary spastic paraplegia
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Badanie podłoża molekularnego i próba genetycznej klasyfikacji pacjentów z objawami spastycznej paraplegiiBadanie podłoża molekularnego i próba genetycznej klasyfikacji pacjentów z objawami spastycznej paraplegii
Hereditary spastic paraplegia
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Supplemental material 2 References cited in Table 1Supplemental material 2 References cited in Table 1
Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified gtpase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001;29: 326-331. Hereditary spastic paraplegia
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Frequency and phenotype of spg11 and spg15 in complicated spastic paraplegia (hsp)Frequency and phenotype of spg11 and spg15 in complicated spastic paraplegia (hsp)
R. Schüle (MD); N. Schlipf; M. Synofzik (MD),; S. Klebe (MD), S. Klimpe (MD); U. Hehr (MD); B. Winner (MD); T. Lindig (MD),; A. Dotzer (MD), O. Rieß (MD) J. Winkler (MD); L. Schöls. Hereditary spastic paraplegia
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Supplementary table 2 Hereditary spastic paraplegia patients with likely non-causative mutations identified by exome sequencingSupplementary table 2 Hereditary spastic paraplegia patients with likely non-causative mutations identified by exome sequencing
Hereditary spastic paraplegia
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Yeast ing protein Yeast Protein Human OrthologYeast ing protein Yeast Protein Human Ortholog
Mitochondrial intermediate peptidase, cleaves n-terminal residues of a subset of proteins upon import, after their cleavage by mitochondrial processing peptidase (Mas1p-Mas2p); may contribute to mitochondrial iron homeostasis. Hereditary spastic paraplegia
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Table worm genes with locomotive phenotypes. Ortholog data were obtained from InParanoid and WormBase (WS230). Human disease information was obtained from omim orgTable worm genes with locomotive phenotypes. Ortholog data were obtained from InParanoid and WormBase (WS230). Human disease information was obtained from omim org
Hereditary spastic paraplegia
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Texas scottish rite hospital for childrenTexas scottish rite hospital for children
The donation was inspired by Bob Aniol, a Sundt Project Executive, and his passion to raise awareness of Hereditary Spastic Paraplegia (hsp). Hereditary spastic paraplegia
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