publication venue for
- Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. 2008
- A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. 2003
- A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. 1995
- Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.. 30. 2020
- International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.. 27. 2017
- Identifying evidence of cardio-renal syndrome in patients with Duchenne muscular dystrophy using cystatin C.. 26. 2016
- Expression of IL-17B in neurons and evaluation of its possible role in the chromosome 5q-linked form of Charcot-Marie-Tooth disease.. 12. 2002
- Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies.. 3. 1993
- The immune system continues to knock at the ALS door.. 26. 2016
- Chronic inflammatory demyelinating polyneuropathy. 1996