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PubPharm (41)
1
Bulbar function in spinal muscular atrophy (SMA) : State of art and new challenges. 21st July 2023, Rome, Italy
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
McGrattan, K.
|
Cerchiari, A.
|
Conway, E.
| +41
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2
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA) : Challenges and Opportunities
enthalten in:
Journal of clinical medicine
| 2023
von
Rodriguez-Torres, R.
|
Uher, D.
|
Gay, E.
| +8
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3
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease : A clinical practice resource
enthalten in:
Molecular genetics and metabolism
| 2023
von
Koch, R.
|
Soler-Alfonso, C.
|
Kiely, B.
| +16
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4
Progressive external ophthalmoplegia
enthalten in:
Handbook of clinical neurology
| 2023
von
Hirano, M.
|
Pitceathly, R.
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5
Time to harmonize mitochondrial syndrome nomenclature and classification : A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
enthalten in:
Molecular genetics and metabolism
| 2022
von
Emmanuele, V.
|
Ganesh, J.
|
Vladutiu, G.
| +14
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6
Advances in Thymidine Kinase 2 Deficiency : Clinical Aspects, Translational Progress, and Emerging Therapies
enthalten in:
Journal of neuromuscular diseases
| 2022
von
Berardo, A.
|
Domínguez-González, C.
|
Engelstad, K.
| +1
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7
Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Domínguez-González, C.
|
Madruga-Garrido, M.
|
Hirano, M.
| +9
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8
Regulatory environment for novel therapeutic development in mitochondrial diseases
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Hirano, M.
|
Berardo, A.
|
Barca, E.
| +6
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9
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Hirano, M.
|
Carelli, V.
|
De Giorgio, R.
| +34
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10
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers : A case series and literature review
enthalten in:
Parkinsonism & related disorders
| 2019
von
Galosi, S.
|
Barca, E.
|
Carrozzo, R.
| +14
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Thema: Review
Medienart
41
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29
E-Artikel
29
E-Ressourcen
12
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Zeitschriftentitel
4
Molecular genetics and metabolism
2
Advances in experimental medicine and biology
2
Advances in neurology
2
Archives of neurology
2
Journal of inherited metabolic disease
2
Nature reviews. Neurology
2
Neuromuscular disorders : NMD
1
BioFactors (Oxford, England)
1
Biochimica et biophysica acta
1
Brain : a journal of neurology
1
Clinical chemistry and laboratory medicine
1
Current neurology and neuroscience reports
1
Current opinion in neurology
1
Developmental disabilities research reviews
1
Essays in biochemistry
1
Genetics in medicine : official journal of the ...
1
Handbook of clinical neurology
1
JAMA neurology
1
Journal of clinical medicine
1
Journal of neuromuscular diseases
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Thema
41
Journal Article
Review
27
Research Support, Non-U.S. Gov't
17
Research Support, N.I.H., Extramural
14
DNA, Mitochondrial
8
1339-63-5
8
Ubiquinone
6
EJ27X76M46
6
coenzyme Q10
5
EC 2.4.2.4
5
Research Support, U.S. Gov't, P.H.S.
5
Thymidine Phosphorylase
3
Case Reports
3
Mitochondrial Proteins
3
Mitochondrial disease
3
Research Support, U.S. Gov't, Non-P.H.S.
3
thymidine kinase 2
2
9005-79-2
2
Carrier Proteins
2
EC 2.7.1.-
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Erscheinungszeitraum
9
2020-
16
2010-2019
16
2000-2009
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40
Englisch
1
Japanisch
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