These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 32457452)

  • 1. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
    Cortese A; Zhu Y; Rebelo AP; Negri S; Courel S; Abreu L; Bacon CJ; Bai Y; Bis-Brewer DM; Bugiardini E; Buglo E; Danzi MC; Feely SME; Athanasiou-Fragkouli A; Haridy NA; ; Isasi R; Khan A; Laurà M; Magri S; Pipis M; Pisciotta C; Powell E; Rossor AM; Saveri P; Sowden JE; Tozza S; Vandrovcova J; Dallman J; Grignani E; Marchioni E; Scherer SS; Tang B; Lin Z; Al-Ajmi A; Schüle R; Synofzik M; Maisonobe T; Stojkovic T; Auer-Grumbach M; Abdelhamed MA; Hamed SA; Zhang R; Manganelli F; Santoro L; Taroni F; Pareyson D; Houlden H; Herrmann DN; Reilly MM; Shy ME; Zhai RG; Zuchner S
    Nat Genet; 2020 Jun; 52(6):640. PubMed ID: 32457452
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
    Cortese A; Zhu Y; Rebelo AP; Negri S; Courel S; Abreu L; Bacon CJ; Bai Y; Bis-Brewer DM; Bugiardini E; Buglo E; Danzi MC; Feely SME; Athanasiou-Fragkouli A; Haridy NA; ; Isasi R; Khan A; Laurà M; Magri S; Pipis M; Pisciotta C; Powell E; Rossor AM; Saveri P; Sowden JE; Tozza S; Vandrovcova J; Dallman J; Grignani E; Marchioni E; Scherer SS; Tang B; Lin Z; Al-Ajmi A; Schüle R; Synofzik M; Maisonobe T; Stojkovic T; Auer-Grumbach M; Abdelhamed MA; Hamed SA; Zhang R; Manganelli F; Santoro L; Taroni F; Pareyson D; Houlden H; Herrmann DN; Reilly MM; Shy ME; Zhai RG; Zuchner S
    Nat Genet; 2020 May; 52(5):473-481. PubMed ID: 32367058
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and Genetic Features of Biallelic Mutations in
    Liu X; He J; Yilihamu M; Duan X; Fan D
    Front Neurol; 2021; 12():733926. PubMed ID: 34819907
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
    Laššuthová P; Mazanec R; Staněk D; Sedláčková L; Plevová B; Haberlová J; Seeman P
    Sci Rep; 2021 Apr; 11(1):8443. PubMed ID: 33875678
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
    Grosz BR; Stevanovski I; Negri S; Ellis M; Barnes S; Reddel S; Vucic S; Nicholson GA; Cortese A; Kumar KR; Deveson IW; Kennerson ML
    J Peripher Nerv Syst; 2022 Jun; 27(2):120-126. PubMed ID: 35224818
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Author Correction: Propagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy.
    Coussa RG; Merat P; Levin LA
    Sci Rep; 2020 Mar; 10(1):4646. PubMed ID: 32157129
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
    Dong HL; Li JQ; Liu GL; Yu H; Wu ZY
    NPJ Genom Med; 2021 Jan; 6(1):1. PubMed ID: 33397963
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
    Li L; Xie Y; Zeng S; Li X; Lin Z; Huang S; Zhao H; Cao W; Liu L; Liu J; Rong P; Zhang R
    J Peripher Nerv Syst; 2023 Dec; 28(4):608-613. PubMed ID: 37584201
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
    Rebelo AP; Abad C; Dohrn MF; Li JJ; Tieu E; Medina J; Yanick C; Huang J; Zotter B; Young JI; Saporta M; Scherer SS; Walz K; Zuchner S
    bioRxiv; 2023 Dec; ():. PubMed ID: 38106042
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Skeletal muscle involvement in biallelic
    Massucco S; Gemelli C; Bellone E; Geroldi A; Patrone S; Mandich P; Scarsi E; Faedo E; Marinelli L; Mongini T; Traverso M; Baratto S; Schenone A; Fiorillo C; Grandis M
    Acta Myol; 2023; 42(4):113-117. PubMed ID: 38406380
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
    Pons N; Fernández-Eulate G; Pegat A; Théaudin M; Guieu R; Ripellino P; Devedjian M; Mace P; Masingue M; Léonard-Louis S; Petiot P; Roche P; Bernard E; Bouhour F; Good JM; Verschueren A; Grapperon AM; Salort E; Grosset A; Chanson JB; Nadaj-Pakleza A; Bédat-Millet AL; Choumert A; Barnier A; Hamdi G; Lesca G; Prieur F; Bruneel A; Latour P; Stojkovic T; Attarian S; Bonello-Palot N
    Eur J Neurol; 2023 Jul; 30(7):2001-2011. PubMed ID: 36943151
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
    Frasquet M; Rojas-García R; Argente-Escrig H; Vázquez-Costa JF; Muelas N; Vílchez JJ; Sivera R; Millet E; Barreiro M; Díaz-Manera J; Turon-Sans J; Cortés-Vicente E; Querol L; Ramírez-Jiménez L; Martínez-Rubio D; Sánchez-Monteagudo A; Espinós C; Sevilla T; Lupo V
    Eur J Neurol; 2021 Apr; 28(4):1334-1343. PubMed ID: 33369814
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Author Correction: Mutations in COMP cause familial carpal tunnel syndrome.
    Li C; Wang N; Schäffer AA; Liu X; Zhao Z; Elliott G; Garrett L; Choi NT; Wang Y; Wang Y; Wang C; Wang J; Chan D; Su P; Cui S; Yang Y; Gao B
    Nat Commun; 2020 Aug; 11(1):3931. PubMed ID: 32747625
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
    Vabres P; Sorlin A; Kholmanskikh SS; Demeer B; St-Onge J; Duffourd Y; Kuentz P; Courcet JB; Carmignac V; Garret P; Bessis D; Boute O; Bron A; Captier G; Carmi E; Devauchelle B; Geneviève D; Gondry-Jouet C; Guibaud L; Lafon A; Mathieu-Dramard M; Thevenon J; Dobyns WB; Bernard G; Polubothu S; Faravelli F; Kinsler VA; Thauvin C; Faivre L; Ross ME; Rivière JB
    Nat Genet; 2019 Nov; 51(11):1660. PubMed ID: 31611689
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
    Vabres P; Sorlin A; Kholmanskikh SS; Demeer B; St-Onge J; Duffourd Y; Kuentz P; Courcet JB; Carmignac V; Garret P; Bessis D; Boute O; Bron A; Captier G; Carmi E; Devauchelle B; Geneviève D; Gondry-Jouet C; Guibaud L; Lafon A; Mathieu-Dramard M; Thevenon J; Dobyns WB; Bernard G; Polubothu S; Faravelli F; Kinsler VA; Thauvin C; Faivre L; Ross ME; Rivière JB
    Nat Genet; 2020 Mar; 52(3):353. PubMed ID: 32034319
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
    Alluqmani M; Basit S
    BMC Med Genomics; 2022 Apr; 15(1):88. PubMed ID: 35436891
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Author Correction: RNA-seq of serial kidney biopsies obtained during progression of chronic kidney disease from dogs with X-linked hereditary nephropathy.
    Chu CP; Hokamp JA; Cianciolo RE; Dabney AR; Brinkmeyer-Langford C; Lees GE; Nabity MB
    Sci Rep; 2020 Feb; 10(1):2381. PubMed ID: 32024902
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Author Correction: Erythropoietin (EPO) haplotype associated with all-cause mortality in a cohort of Italian patients with Type-2 Diabetes.
    Montesanto A; Bonfigli AR; De Luca M; Crocco P; Garagnani P; Marasco E; Pirazzini C; Giuliani C; Romagnoli F; Franceschi C; Passarino G; Testa R; Olivieri F; Rose G
    Sci Rep; 2020 Feb; 10(1):3554. PubMed ID: 32081853
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
    Wada Y; Kikuchi A; Arai-Ichinoi N; Sakamoto O; Takezawa Y; Iwasawa S; Niihori T; Nyuzuki H; Nakajima Y; Ogawa E; Ishige M; Hirai H; Sasai H; Fujiki R; Shirota M; Funayama R; Yamamoto M; Ito T; Ohara O; Nakayama K; Aoki Y; Koshiba S; Fukao T; Kure S
    Genet Med; 2020 Jul; 22(7):1281. PubMed ID: 32499603
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.
    Bernard E; Pegat A; Vallet AE; Leblanc P; Lumbroso S; Mouzat K; Latour P
    Amyotroph Lateral Scler Frontotemporal Degener; 2022 Aug; 23(5-6):473-475. PubMed ID: 34751056
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.