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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo, Graeme A M; Venkatesh, Sundararajan; Pandey, Ashutosh K; Marshall, Christian R; Hazrati, Lili-Naz; Blaser, Susan; Ahmed, Sohnee; Cameron, Jessie; Singh, Kamalendra; Ray, Peter N; Suzuki, Carolyn K; Yoon, Grace.
Afiliación
  • Nimmo GAM; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Venkatesh S; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ, USA.
  • Pandey AK; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ, USA.
  • Marshall CR; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Hazrati LN; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Blaser S; Division of Neuropathology, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada.
  • Ahmed S; Division of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Cameron J; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Singh K; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Ray PN; Molecular Microbiology and Immunology, Christopher Bond Life Sciences Center, University of Missouri School of Medicine, Columbia, Missouri, USA.
  • Suzuki CK; Department of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institutet, Stockholm, SE Sweden.
  • Yoon G; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Hum Mol Genet ; 28(2): 290-306, 2019 01 15.
Article en En | MEDLINE | ID: mdl-30304514
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Texto completo: 1 Colección: 01-internacional Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Enfermedades Cerebelosas / Enfermedades Neurodegenerativas / Proteínas Mitocondriales / Proteasas ATP-Dependientes / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Enfermedades Cerebelosas / Enfermedades Neurodegenerativas / Proteínas Mitocondriales / Proteasas ATP-Dependientes / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Canadá