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 *

207 related articles for article (PubMed ID: 35731353)

  • 21. Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
    Aly KA; Moutaoufik MT; Zilocchi M; Phanse S; Babu M
    Curr Opin Chem Biol; 2022 Dec; 71():102211. PubMed ID: 36126381
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
    De Ritis D; Ferrè L; De Winter J; Tremblay-Desbiens C; Blais M; Bassi MT; Dupré N; Baets J; Filippi M; Maltecca F
    Brain Commun; 2024; 6(4):fcae243. PubMed ID: 39091421
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Sánchez MG; Pérez JE; Pérez MR; Redondo AG
    J Neurol Sci; 2015 Nov; 358(1-2):475-6. PubMed ID: 26344561
    [No Abstract]   [Full Text] [Related]  

  • 24. Clinical and molecular studies in two new cases of ARSACS.
    Ricca I; Morani F; Bacci GM; Nesti C; Caputo R; Tessa A; Santorelli FM
    Neurogenetics; 2019 Mar; 20(1):45-49. PubMed ID: 30680480
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Spastic ataxias.
    Bereznyakova O; Dupré N
    Handb Clin Neurol; 2018; 155():191-203. PubMed ID: 29891058
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
    Ady V; Toscano-Márquez B; Nath M; Chang PK; Hui J; Cook A; Charron F; Larivière R; Brais B; McKinney RA; Watt AJ
    J Physiol; 2018 Sep; 596(17):4253-4267. PubMed ID: 29928778
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
    Rezende Filho FM; Bremner F; Pedroso JL; de Andrade JBC; Marianelli BF; Lourenço CM; Marques-Júnior W; França MC; Kok F; Sallum JMF; Parkinson MH; Barsottini OG; Giunti P
    Mov Disord; 2021 Sep; 36(9):2027-2035. PubMed ID: 33893680
    [TBL] [Abstract][Full Text] [Related]  

  • 28. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Pilliod J; Moutton S; Lavie J; Maurat E; Hubert C; Bellance N; Anheim M; Forlani S; Mochel F; N'Guyen K; Thauvin-Robinet C; Verny C; Milea D; Lesca G; Koenig M; Rodriguez D; Houcinat N; Van-Gils J; Durand CM; Guichet A; Barth M; Bonneau D; Convers P; Maillart E; Guyant-Marechal L; Hannequin D; Fromager G; Afenjar A; Chantot-Bastaraud S; Valence S; Charles P; Berquin P; Rooryck C; Bouron J; Brice A; Lacombe D; Rossignol R; Stevanin G; Benard G; Burglen L; Durr A; Goizet C; Coupry I
    Ann Neurol; 2015 Dec; 78(6):871-86. PubMed ID: 26288984
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Diversity of ARSACS mutations in French-Canadians.
    Thiffault I; Dicaire MJ; Tetreault M; Huang KN; Demers-Lamarche J; Bernard G; Duquette A; Larivière R; Gehring K; Montpetit A; McPherson PS; Richter A; Montermini L; Mercier J; Mitchell GA; Dupré N; Prévost C; Bouchard JP; Mathieu J; Brais B
    Can J Neurol Sci; 2013 Jan; 40(1):61-6. PubMed ID: 23250129
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Habibzadeh P; Tabatabaei Z; Inaloo S; Nashatizadeh MM; Synofzik M; Ostovan VR; Faghihi MA
    Front Genet; 2020; 11():585136. PubMed ID: 33414805
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Is the ataxia of Charlevoix-Saguenay a developmental disease?
    Gazulla J; Vela AC; Marín MA; Pablo L; Santorelli FM; Benavente I; Modrego P; Tintoré M; Berciano J
    Med Hypotheses; 2011 Sep; 77(3):347-52. PubMed ID: 21665375
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the
    Sharma R; Aravindhan A; Puente C; Veerapandiyan A
    J Investig Med High Impact Case Rep; 2022; 10():23247096221139670. PubMed ID: 36458808
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Miyatake S; Miyake N; Doi H; Saitsu H; Ogata K; Kawai M; Matsumoto N
    Intern Med; 2012; 51(16):2221-6. PubMed ID: 22892508
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Zeng H; Tang JG; Yang YF; Tan ZP; Tan JQ
    Cytogenet Genome Res; 2017; 152(1):16-21. PubMed ID: 28658676
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y
    Cerebellum; 2007; 6(4):353-9. PubMed ID: 17853117
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS).
    Dziewulska D
    Folia Neuropathol; 2020; 58(2):94-99. PubMed ID: 32729297
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Vogel AP; Rommel N; Oettinger A; Stoll LH; Kraus EM; Gagnon C; Horger M; Krumm P; Timmann D; Storey E; Schöls L; Synofzik M
    J Neurol; 2018 Sep; 265(9):2060-2070. PubMed ID: 29968200
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Girard M; Larivière R; Parfitt DA; Deane EC; Gaudet R; Nossova N; Blondeau F; Prenosil G; Vermeulen EG; Duchen MR; Richter A; Shoubridge EA; Gehring K; McKinney RA; Brais B; Chapple JP; McPherson PS
    Proc Natl Acad Sci U S A; 2012 Jan; 109(5):1661-6. PubMed ID: 22307627
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.
    Pedroso JL; Braga-Neto P; Abrahão A; Rivero RL; Abdalla C; Abdala N; Barsottini OG
    Arq Neuropsiquiatr; 2011; 69(2B):288-91. PubMed ID: 21625752
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
    Verhoeven WM; Egger JI; Ahmed AI; Kremer BP; Vermeer S; van de Warrenburg BP
    Psychopathology; 2012; 45(3):193-9. PubMed ID: 22441213
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.