Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1999 2
2006 1
2009 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Spastic paraplegia 52, autosomal recessive"
Page 1
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast.
Pearce DA. Pearce DA. Hum Genet. 1999 Jun;104(6):443-8. doi: 10.1007/s004390050985. Hum Genet. 1999. PMID: 10453730 Review.
Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified a …
Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an …
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. Goizet C, et al. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Brain. 2009. PMID: 19439420
We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure (n = 52) or a complex form ( …
We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal …
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. Thiffault I, et al. Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3. Brain. 2006. PMID: 16672289
Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families affected by an autosomal recessive spastic ataxia associated with frequent white matter changes. ...The uncovering of th …
Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families a …
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.
Settasatian C, Whitmore SA, Crawford J, Bilton RL, Cleton-Jansen AM, Sutherland GR, Callen DF. Settasatian C, et al. Hum Genet. 1999 Jul-Aug;105(1-2):139-44. doi: 10.1007/s004399900087. Hum Genet. 1999. PMID: 10480368
SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic paraplegia (HSP), a genetically heterogeneous group of neurodegenerative disorders. ...It is organized into 17 exons ranging from 78 to 242 bp and spans appro …
SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic paraplegia (HSP), …
Prevalence and pattern of spinocerebellar degenerations in northeastern Libya.
Sridharan R, Radhakrishnan K, Ashok PP, Mousa ME. Sridharan R, et al. Brain. 1985 Dec;108 ( Pt 4):831-43. doi: 10.1093/brain/108.4.831. Brain. 1985. PMID: 4075075
Twenty-five patients lived in Benghazi, giving a crude prevalence of 4.8/100 000 population. There were 24 patients (10 families) with hereditary spastic paraplegia (HSP), 13 (9 families) with early onset cerebellar ataxia with retained tendon reflexes (EOCA), 3 wit …
Twenty-five patients lived in Benghazi, giving a crude prevalence of 4.8/100 000 population. There were 24 patients (10 families) with hered …