Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
About this item
Full title
Author / Creator
Hikmat, Omar , Isohanni, Pirjo , Keshavan, Nandaki , Ferla, Matteo P. , Fassone, Elisa , Abbott, Mary‐Alice , Bellusci, Marcello , Darin, Niklas , Dimmock, David , Ghezzi, Daniele , Houlden, Henry , Invernizzi, Federica , Kamarus Jaman, Nazreen B. , Kurian, Manju A. , Morava, Eva , Naess, Karin , Ortigoza‐Escobar, Juan Darío , Parikh, Sumit , Pennisi, Alessandra , Barcia, Giulia , Tylleskär, Karin B. , Brackman, Damien , Wortmann, Saskia B. , Taylor, Jenny C. , Bindoff, Laurence A. , Fellman, Vineta , Rahman, Shamima , Faculty of Medicine , Department of Clinical Sciences, Lund , Medicinska fakulteten , Paediatrics (Lund) , Lund University , Sektion V , Pediatrik, Lund , Section V , Institutionen för kliniska vetenskaper, Lund and Lunds universitet
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
To delineate the full phenotypic spectrum of BCS1L‐related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers.
Methods
We performed a retrospective multinational cohort study of previously unpublished patients followed in 15 centres from 10 countries. Pati...
Alternative Titles
Full title
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Authors, Artists and Contributors
Author / Creator
Isohanni, Pirjo
Keshavan, Nandaki
Ferla, Matteo P.
Fassone, Elisa
Abbott, Mary‐Alice
Bellusci, Marcello
Darin, Niklas
Dimmock, David
Ghezzi, Daniele
Houlden, Henry
Invernizzi, Federica
Kamarus Jaman, Nazreen B.
Kurian, Manju A.
Morava, Eva
Naess, Karin
Ortigoza‐Escobar, Juan Darío
Parikh, Sumit
Pennisi, Alessandra
Barcia, Giulia
Tylleskär, Karin B.
Brackman, Damien
Wortmann, Saskia B.
Taylor, Jenny C.
Bindoff, Laurence A.
Fellman, Vineta
Rahman, Shamima
Faculty of Medicine
Department of Clinical Sciences, Lund
Medicinska fakulteten
Paediatrics (Lund)
Lund University
Sektion V
Pediatrik, Lund
Section V
Institutionen för kliniska vetenskaper, Lund
Lunds universitet
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7ea99688d16d4beba2c9f25ff13dc276
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7ea99688d16d4beba2c9f25ff13dc276
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51470
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