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Hedberg‐Oldfors, Carola
75  results:
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1

Respiratory chain dysfunction in perifascicular muscle fibr..:

Hedberg‐Oldfors, Carola ; Lindgren, Ulrika ; Visuttijai, Kittichate...
Neuropathology and Applied Neurobiology.  48 (2022)  7 - p. , 2022
Link: https://doi.org/10.1111/..
 
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2

Four Swedish cases of CSF1R‐related leukoencephalopathy: Vi..:

Rosenstein, Igal ; Andersen, Oluf ; Victor, Daniel...
Acta Neurologica Scandinavica.  145 (2022)  5 - p. 599-609 , 2022
Link: https://doi.org/10.1111/..
 
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3

The SwedishCOG6‐CDGexperience and a comprehensive literatur..:

Xia, Zhi‐Jie ; Ng, Bobby G. ; Jennions, Elizabeth...
JIMD Reports.  64 (2022)  1 - p. 79-89 , 2022
Link: https://doi.org/10.1002/..
 
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4

Thermo‐sensitive mitochondrial trifunctional protein defici..:

Schwantje, Marit ; Ebberink, Merel S. ; Doolaard, Mirjam...
Journal of Inherited Metabolic Disease.  45 (2022)  4 - p. 819-831 , 2022
Link: https://doi.org/10.1002/..
 
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5

Mitochondrial DNA variants in inclusion body myositis chara..:

Hedberg‐Oldfors, Carola ; Lindgren, Ulrika ; Basu, Swaraj...
Brain Pathology.  31 (2021)  3 - p. , 2021
Link: https://doi.org/10.1111/..
 
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6

Expression pattern of mitochondrial respiratory chain enzym..:

Roos, Sara ; Hedberg‐Oldfors, Carola ; Visuttijai, Kittichate...
Brain Pathology.  32 (2021)  4 - p. , 2021
Link: https://doi.org/10.1111/..
 
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7

RBCK1‐related disease: A rare multisystem disorder with pol..:

Phadke, Rahul ; Hedberg‐Oldfors, Carola ; Scalco, Renata S....
Journal of Inherited Metabolic Disease.  43 (2020)  5 - p. 1002-1013 , 2020
Link: https://doi.org/10.1002/..
 
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8

Progressive external ophthalmoplegia associated with novelM..:

Visuttijai, Kittichate ; Hedberg‐Oldfors, Carola ; Lindgren, Ulrika...
Acta Neurologica Scandinavica.  143 (2020)  1 - p. 103-108 , 2020
Link: https://doi.org/10.1111/..
 
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9

TANGO2 deficiency as a cause of neurodevelopmental delay wi..:

Jennions, Elizabeth ; Hedberg‐Oldfors, Carola ; Berglund, Anna‐Karin...
Journal of Inherited Metabolic Disease.  42 (2019)  5 - p. 898-908 , 2019
Link: https://doi.org/10.1002/..
 
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10

Novel myopathy in a newborn with Shwachman–Diamond syndrome..:

Topa, Alexandra ; Tulinius, Mar ; Oldfors, Anders.
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1155-1164 , 2016
Link: https://doi.org/10.1002/..
 
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11

Cardiomyopathy as presenting sign of glycogenin‐1 deficienc..:

Hedberg‐Oldfors, Carola ; Glamuzina, Emma ; Ruygrok, Peter...
Journal of Inherited Metabolic Disease.  40 (2016)  1 - p. 139-149 , 2016
Link: https://doi.org/10.1007/..
 
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12

A new muscle glycogen storage disease associated with glyco..:

Malfatti, Edoardo ; Nilsson, Johanna ; Hedberg‐Oldfors, Carola...
Annals of Neurology.  76 (2014)  6 - p. 891-898 , 2014
Link: https://doi.org/10.1002/..
 
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13

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital..:

Hedberg-Oldfors, Carola ; Mitra, Sanhita ; Molinaro, Angela...
European Journal of Human Genetics.  31 (2023)  8 - p. 887-894 , 2023
Link: https://doi.org/10.1038/..
 
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14

Inclusion body myositis with early onset: a population-base..:

Lindgren, Ulrika ; Hedberg-Oldfors, Carola ; Pullerits, Rille..
Journal of Neurology.  270 (2023)  11 - p. 5483-5492 , 2023
Link: https://doi.org/10.1007/..
 
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15

Dominantly inherited myosin IIa myopathy caused by aberrant..:

Hedberg-Oldfors, Carola ; Elíasdóttir, Ólöf ; Geijer, Mats..
BMC Neurology.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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