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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study Cover

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
By: M Rogac,  D Neubauer,  L Leonardis,  N Pecaric,  M Meznaric,  A Maver,  W Sperl,  BM Garavaglia,  E Lamantea and  B Peterlin  
Open Access
|Jun 2022

Authors

M Rogac

mihael.rogac@kclj.si

Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia

D Neubauer

Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia

L Leonardis

Institute of Clinical Neurophysiology, Division of Neurology, University Medical Center Ljubljana, Ljubljana, Slovenia

N Pecaric

Department of Radiology, University Medical Center Ljubljana, Ljubljana, Slovenia

M Meznaric

Institute of Anatomy, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

A Maver

Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia

W Sperl

Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria

BM Garavaglia

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy

E Lamantea

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy

B Peterlin

Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia
DOI: https://doi.org/10.2478/bjmg-2021-0019 | Journal eISSN: 2199-5761
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Language: English
Page range: 5 - 14
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Exome-sequencing,
Magnetic resonance imaging (MRI),
Mitochondrial disease (MD),
Nijmegen mitochondrial disease criteria (MDC),
Muscle biopsy
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2022 M Rogac, D Neubauer, L Leonardis, N Pecaric, M Meznaric, A Maver, W Sperl, BM Garavaglia, E Lamantea, B Peterlin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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