(Q28281394)

5

0 references

Anna-Elina Lehesjoki

18

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Clotilde Lagier-Tourenne

4

object named as

Clotilde Lagier-Tourenne

0 references

Ibrahim Mahjneh

object named as

Ibrahim Mahjneh

2

0 references

Denys Chaigne

12

object named as

Denys Chaigne

0 references

author name string

Anna-Kaisa Anttonen

1

0 references

Riikka H Hämäläinen

3

0 references

Laura Waris

6

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Mikko Anttonen

7

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Tarja Joensuu

8

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Hannu Kalimo

9

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Anders Paetau

10

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Lisbeth Tranebjaerg

11

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Michel Koenig

13

0 references

Orvar Eeg-Olofsson

14

0 references

Bjarne Udd

15

0 references

Mirja Somer

16

0 references

Hannu Somer

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

17

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language of work or name

English

0 references

publication date

December 2005

0 references

published in

Nature Genetics

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volume

37

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issue

12

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page(s)

1309-11

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cites work

1 reference

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

21 January 2018

1 reference

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

21 January 2018

1 reference

Interaction of Kar2p and Sls1p is required for efficient co-translational translocation of secreted proteins in the yeast Yarrowia lipolytica.

21 January 2018

1 reference

LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum

21 January 2018

1 reference

BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.

21 January 2018

1 reference

Roles of molecular chaperones in protein misfolding diseases

21 January 2018

1 reference

Modulation of neurodegeneration by molecular chaperones

21 January 2018

1 reference

Coordinated activation of Hsp70 chaperones

21 January 2018

1 reference

Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP

21 January 2018

1 reference

Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

1 reference