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You searched for: Author/Creator Riley, Lisa G.

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1. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Issue 8 (2nd June 2017)

2. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Issue 2 (19th December 2016)

3. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Issue 1 (1st October 2021)

4. Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy. Issue 12 (7th September 2022)

5. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. (12th March 2019)

6. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia. (23rd February 2023)

7. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. (2nd January 2015)

8. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Issue 8 (27th July 2020)