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Tanya Stojkovic

14

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245

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Papers (11) Sort By

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MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

2018 Journal of Clinical Lipidology
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Citations (29)
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

2017 Acta Neuropathologica
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Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation

2017 Clinica Chimica Acta
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An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

2014 Orphanet Journal of Rare Diseases
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The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

2014 Acta neuropathologica communications
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Collagène VI et maladies musculaires

2010
- Tanya Stojkovic
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Ullrich congenital dystrophy and bethlem myopathy: Current knowledge on the clinical spectrum, pathogenesis, and future therapeutic avenues of collagen VI related muscular dystrophies

2009 Current Pediatric Reviews
- Nicolas Deconinck
- Tanya Stojkovic
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Citations (1)
Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

2009 Genetic Testing and Molecular Biomarkers
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Specific pattern of nitric oxide synthase expression in glial cells after hippocampal injury.

1998 Glia
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Neurological manifestations in two related xeroderma pigmentosum group D patients: complications of the late-onset type of the juvenile form.

1997 Movement Disorders
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Citations (4)