Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis (Q34391922)

1 August 2017

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis (English)

1 reference

1 August 2017

1

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11 June 2020

Elena Panzeri

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11 June 2020

Maria Grazia D'Angelo

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11 June 2020

Massimiliano Filosto

5

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11 June 2020

Filippo Arrigoni

7

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11 June 2020

Cristina Maghini

9

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11 June 2020

Andrea Martinuzzi

12

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11 June 2020

Nereo Bresolin

13

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11 June 2020

Maria Teresa Bassi

14

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11 June 2020

author name string

Alessia Arnoldi

2

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11 June 2020

Robertino Dilena

6

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11 June 2020

Marianna Castelli

8

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11 June 2020

Chiara Germiniasi

10

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11 June 2020

Francesca Menni

11

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11 June 2020

publication date

13 December 2013

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1 August 2017

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11 June 2020

volume

261

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11 June 2020

issue

2

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11 June 2020

page(s)

373-381

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https://scigraph.springernature.com/pub.10.1007/s00415-013-7206-6

11 June 2020

exact match

0 references

cites work

Hereditary spastic paraplegias: an update

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Hereditary spastic paraparesis: a review of new developments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Genetics of hereditary spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7206-6

Hereditary spastic paraplegia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24337409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24337409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-013-7206-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24337409%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

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