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Quoted phrase not found in phrase index: "Autosomal recessive ataxia due to ubiquinone deficiency"
Page 1
Hereditary ataxias: overview.
Jayadev S, Bird TD. Jayadev S, et al. Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Genet Med. 2013. PMID: 23538602 Free article. Review.
Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are -Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, and ataxia with oculomotor apraxia type 2. Four autosomal reces …
Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are -Friedreich, ataxia-te …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development o …
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both c …
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
Krygier M, Kwarciany M, Wasilewska K, Pienkowski VM, Krawczyńska N, Zielonka D, Kosińska J, Stawinski P, Rudzińska-Bar M, Boczarska-Jedynak M, Karaszewski B, Limon J, Sławek J, Płoski R, Rydzanicz M. Krygier M, et al. Clin Genet. 2019 Mar;95(3):415-419. doi: 10.1111/cge.13489. Epub 2019 Jan 8. Clin Genet. 2019. PMID: 30548255
We performed a next-generation sequencing (NGS) analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following dis …
We performed a next-generation sequencing (NGS) analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspecte …
Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants.
Nam DW, Park SS, Lee SM, Suh MW, Park MK, Song JJ, Choi BY, Lee JH, Oh SH, Moon KC, Ahn YH, Kang HG, Cheong HI, Kim JH, Lee SY. Nam DW, et al. Biomed Res Int. 2022 Sep 9;2022:5250254. doi: 10.1155/2022/5250254. eCollection 2022. Biomed Res Int. 2022. PMID: 36124066 Free PMC article.
Primary coenzyme Q10 (CoQ10) deficiency refers to a group of mitochondrial cytopathies caused by genetic defects in CoQ10 biosynthesis. Primary coenzyme Q10 deficiency-6 (COQ10D6) is an autosomal recessive disorder attributable to biallelic COQ6 …
Primary coenzyme Q10 (CoQ10) deficiency refers to a group of mitochondrial cytopathies caused by genetic defects in CoQ10 biosynthesis. Prim …
Clinical spectrum in multiple families with primary COQ10 deficiency.
Hashemi SS, Zare-Abdollahi D, Bakhshandeh MK, Vafaee A, Abolhasani S, Inanloo Rahatloo K, DanaeeFard F, Farboodi N, Rohani M, Alavi A. Hashemi SS, et al. Am J Med Genet A. 2021 Feb;185(2):440-452. doi: 10.1002/ajmg.a.61983. Epub 2020 Nov 20. Am J Med Genet A. 2021. PMID: 33215859
Primary COQ(10) deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ(10) synthesis pathway. Its mode of inheritance is autosomal recessive and it is characterized by metabolic abnormalities and multis …
Primary COQ(10) deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ(10) s …
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. Xiao C, et al. Am J Med Genet A. 2020 Oct;182(10):2426-2431. doi: 10.1002/ajmg.a.61786. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32804429 Free PMC article.
Glutaric acidemia type 2 (GA2), also called multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism resulting in excretion of multiple organic acids and glycine conjugates as well as elevation …
Glutaric acidemia type 2 (GA2), also called multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive disorder of …
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H. Liu YT, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8. doi: 10.1136/jnnp-2013-306483. Epub 2013 Nov 11. J Neurol Neurosurg Psychiatry. 2014. PMID: 24218524 Free PMC article.
BACKGROUND: The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. ...METHODS: We report two siblings from a consanguineous Pakistani family who presented with cerebellar ataxi …
BACKGROUND: The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of n …
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
Yuruk Yildirim Z, Toksoy G, Uyguner O, Nayir A, Yavuz S, Altunoglu U, Turkkan ON, Sevinc B, Gokcay G, Kurkcu Gunes D, Kiyak A, Yilmaz A. Yuruk Yildirim Z, et al. Eur J Med Genet. 2020 Jan;63(1):103621. doi: 10.1016/j.ejmg.2019.01.011. Epub 2019 Jan 22. Eur J Med Genet. 2020. PMID: 30682496
Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. ...
Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutatio …
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group. Montero R, et al. Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11. Mitochondrion. 2013. PMID: 23583954