BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 27601211)

  • 21. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
    Khan TN; Klar J; Tariq M; Anjum Baig S; Malik NA; Yousaf R; Baig SM; Dahl N
    Eur J Hum Genet; 2014 Oct; 22(10):1180-4. PubMed ID: 24473461
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
    Zhao N; Sui Y; Li XF; Liu W; Lu YP; Feng WH; Ma C; Wang YW; Bao HX; Huang F; Wang H; Yi DX; Han WT; Jiang M
    Genet Mol Res; 2015 Nov; 14(4):14690-7. PubMed ID: 26600529
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
    Gonzalez M; Nampoothiri S; Kornblum C; Oteyza AC; Walter J; Konidari I; Hulme W; Speziani F; Schöls L; Züchner S; Schüle R
    Eur J Hum Genet; 2013 Nov; 21(11):1214-8. PubMed ID: 23486545
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
    Lossos A; Stevanin G; Meiner V; Argov Z; Bouslam N; Newman JP; Gomori JM; Klebe S; Lerer I; Elleuch N; Silverstein S; Durr A; Abramsky O; Ben-Nariah Z; Brice A
    Arch Neurol; 2006 May; 63(5):756-60. PubMed ID: 16682547
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
    Perić S; Marković V; Candayan A; De Vriendt E; Momčilović N; Savić A; Dragašević-Mišković N; Svetel M; Stević Z; Božović I; Mesaroš Š; Drulović J; Basta I; Petrović I; Tamaš O; Mijajlović M; Novaković I; Sokić D; Jordanova A
    Cells; 2022 Sep; 11(18):. PubMed ID: 36139378
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
    Boukhris A; Stevanin G; Feki I; Denora P; Elleuch N; Miladi MI; Goizet C; Truchetto J; Belal S; Brice A; Mhiri C
    Clin Genet; 2009 Jun; 75(6):527-36. PubMed ID: 19438933
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
    Schüle R; Bonin M; Dürr A; Forlani S; Sperfeld AD; Klimpe S; Mueller JC; Seibel A; van de Warrenburg BP; Bauer P; Schöls L
    Neurology; 2009 Jun; 72(22):1893-8. PubMed ID: 19357379
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
    Lynch DS; Koutsis G; Tucci A; Panas M; Baklou M; Breza M; Karadima G; Houlden H
    Eur J Hum Genet; 2016 Jun; 24(6):857-63. PubMed ID: 26374131
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
    Sauter SM; Engel W; Neumann LM; Kunze J; Neesen J
    Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695538
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
    Olmez A; Uyanik G; Ozgül RK; Gross C; Cirak S; Elibol B; Anlar B; Winner B; Hehr U; Topaloglu H; Winkler J
    Neuropediatrics; 2006 Apr; 37(2):59-66. PubMed ID: 16773502
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
    Rinaldi C; Schmidt T; Situ AJ; Johnson JO; Lee PR; Chen KL; Bott LC; Fadó R; Harmison GH; Parodi S; Grunseich C; Renvoisé B; Biesecker LG; De Michele G; Santorelli FM; Filla A; Stevanin G; Dürr A; Brice A; Casals N; Traynor BJ; Blackstone C; Ulmer TS; Fischbeck KH
    JAMA Neurol; 2015 May; 72(5):561-70. PubMed ID: 25751282
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
    Dong Y; Li XY; Wang XL; Xu F; Wang ZJ; Song Y; Li Q; Lin R; Wang C
    Neurosci Lett; 2021 Sep; 761():136108. PubMed ID: 34256108
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
    Schüle R; Schlipf N; Synofzik M; Klebe S; Klimpe S; Hehr U; Winner B; Lindig T; Dotzer A; Riess O; Winkler J; Schöls L; Bauer P
    J Neurol Neurosurg Psychiatry; 2009 Dec; 80(12):1402-4. PubMed ID: 19917823
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
    Balicza P; Grosz Z; Gonzalez MA; Bencsik R; Pentelenyi K; Gal A; Varga E; Klivenyi P; Koller J; Züchner S; Molnar JM
    J Neurol Sci; 2016 May; 364():116-21. PubMed ID: 27084228
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
    Akçakaya NH; Özeş Ak B; Gonzalez MA; Züchner S; Battaloğlu E; Parman Y
    Neurol Neurochir Pol; 2020; 54(2):176-184. PubMed ID: 32242913
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
    Citterio A; Arnoldi A; Panzeri E; D'Angelo MG; Filosto M; Dilena R; Arrigoni F; Castelli M; Maghini C; Germiniasi C; Menni F; Martinuzzi A; Bresolin N; Bassi MT
    J Neurol; 2014 Feb; 261(2):373-81. PubMed ID: 24337409
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
    Boukhris A; Feki I; Elleuch N; Miladi MI; Boland-Augé A; Truchetto J; Mundwiller E; Jezequel N; Zelenika D; Mhiri C; Brice A; Stevanin G
    Neurogenetics; 2010 Oct; 11(4):441-8. PubMed ID: 20593214
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
    Mészárosová AU; Grečmalová D; Brázdilová M; Dvořáčková N; Kalina Z; Čermáková M; Vávrová D; Smetanová I; Staněk D; Seeman P
    Ann Hum Genet; 2017 Nov; 81(6):249-257. PubMed ID: 28736820
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
    Eymard-Pierre E; Lesca G; Dollet S; Santorelli FM; di Capua M; Bertini E; Boespflug-Tanguy O
    Am J Hum Genet; 2002 Sep; 71(3):518-27. PubMed ID: 12145748
    [TBL] [Abstract][Full Text] [Related]  

  • 40. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
    Chen S; Zou JL; He S; Li W; Zhang JW; Li SJ
    Brain Behav; 2021 Dec; 11(12):e32395. PubMed ID: 34734492
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.