Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Por: Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yis U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J and Jordanova A

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Publicada: 1 jun 2024 Ahead of Print: 6 mar 2024

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Filiaciones:
Armirola-Ricaurte C:
 Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

 Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Zonnekein N:
 Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

 Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Koutsis G:
 Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

Amor-Barris S:
 Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

 Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Pelayo-Negro AL:
 University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain

Atkinson D:
 Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

 Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Efthymiou S:
 Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom

Turchetti V:
 Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom

Dinopoulos A:
 3rd Department of Pediatrics, Attiko Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

Garcia A:
 Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain

Karakaya M:
 Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany

Moris G:
 Service of Neurology, University Hospital Central de Asturias, University of Oviedo, Oviedo, Spain

Polat AI:
 Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey

Yis U:
 Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey

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 Rare Neurodegenerative Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), CIBER on Rare Diseases (CIBERER), Valencia, Spain

Van de Vondel L:
 Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

 Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

De Vriendt E:
 Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

 Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Karadima G:
 Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

Wirth B:
 Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany

Hanna M:
 Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom

Houlden H:
 Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom

Berciano J:
 University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain

Jordanova A:
 Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

 Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

 Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria