Suchergebnisse - (Subject:"Case Reports")

PubPharm (87)

1

Teaching Video NeuroImage : TWNK Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype

enthalten in: Neurology | 2024

von Fraiman, P. | Silva, T. | Pedroso, J. | +1

2

Teaching NeuroImages : Imaging phenotype of myoclonic epilepsy with ragged-red fibers

enthalten in: Neurology | 2020

von Nikam, R. | Kandula, A. | Schenker, K.

3

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

enthalten in: Neurology | 2014

von Hallmann, K. | Zsurka, G. | Moskau-Hartmann, S. | +12

4

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

enthalten in: Neurology | 2014

von Ahola, S. | Isohanni, P. | Euro, L. | +8

5

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

enthalten in: Neurology | 2013

von Alston, C. | Schaefer, A. | Raman, P. | +13

6

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

enthalten in: Neurology | 2013

von Vissing, C. | Duno, M. | Olesen, J. | +5

7

Targeted exome sequencing of suspected mitochondrial disorders

enthalten in: Neurology | 2013

von Lieber, D. | Calvo, S. | Shanahan, K. | +12

8

TK2 mutation presenting as indolent myopathy

enthalten in: Neurology | 2013

von Paradas, C. | Gutiérrez Ríos, P. | Rivas, E. | +3

9

Clinical reasoning : encephalopathy in a 10-year-old boy

enthalten in: Neurology | 2012

von Rodan, L. | Tein, I.

10

Adult cases of mitochondrial DNA depletion due to TK2 defect : an expanding spectrum

enthalten in: Neurology | 2012

von Béhin, A. | Jardel, C. | Claeys, K. | +6

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