(Q57186864)

1

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Rolf Pfannl

2

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Angelo Ucci

3

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Gérard Lefranc

4

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Annalisa Frattini

5

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André Mégarbané

Ultrastructural Pathology

6

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language of work or name

English

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published in

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volume

31

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issue

5

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page(s)

333-8

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cites work

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Infantile osteopetrosis complicating neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Neurological complications of infantile osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Lectin histochemistry of infantile lysosomal storage disease associated with osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

The association of infantile osteopetrosis and neuronal storage disease in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Skin is a window on heritable disorders of connective tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Fine structure of cutaneous nerves in ganglioside storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

A clinical and molecular overview of the human osteopetroses

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Neurological aspects of osteopetrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098

Cathepsin K Knockout Mice Develop Osteopetrosis Due to a Deficit in Matrix Degradation but Not Demineralization

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120701578098