BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 20806400)

  • 1. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
    Luigetti M; Fabrizi GM; Madia F; Ferrarini M; Conte A; Delgrande A; Tonali PA; Sabatelli M
    Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400
    [TBL] [Abstract][Full Text] [Related]  

  • 2. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
    Rakocević-Stojanović V; Milić-Rasić V; Perić S; Baets J; Timmerman V; Dierick I; Pavlović S; De Jonghe P
    J Neurol Sci; 2010 Sep; 296(1-2):107-9. PubMed ID: 20598714
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
    Windpassinger C; Auer-Grumbach M; Irobi J; Patel H; Petek E; Hörl G; Malli R; Reed JA; Dierick I; Verpoorten N; Warner TT; Proukakis C; Van den Bergh P; Verellen C; Van Maldergem L; Merlini L; De Jonghe P; Timmerman V; Crosby AH; Wagner K
    Nat Genet; 2004 Mar; 36(3):271-6. PubMed ID: 14981520
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
    Auer-Grumbach M; Schlotter-Weigel B; Lochmüller H; Strobl-Wildemann G; Auer-Grumbach P; Fischer R; Offenbacher H; Zwick EB; Robl T; Hartl G; Hartung HP; Wagner K; Windpassinger C;
    Ann Neurol; 2005 Mar; 57(3):415-24. PubMed ID: 15732094
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
    Cho HJ; Sung DH; Ki CS
    Muscle Nerve; 2007 Sep; 36(3):384-6. PubMed ID: 17486577
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
    Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; Pareyson D; Laurà M; Janecke AR; Miltenberger-Miltenyi G; John E; Fischer C; Grill F; Wakeling W; Davis M; Pieber TR; Auer-Grumbach M
    J Neurol Sci; 2007 Dec; 263(1-2):100-6. PubMed ID: 17663003
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].
    Ito D; Suzuki N
    Rinsho Shinkeigaku; 2007 Jun; 47(6):329-35. PubMed ID: 17633104
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
    Irobi J; Van den Bergh P; Merlini L; Verellen C; Van Maldergem L; Dierick I; Verpoorten N; Jordanova A; Windpassinger C; De Vriendt E; Van Gerwen V; Auer-Grumbach M; Wagner K; Timmerman V; De Jonghe P
    Brain; 2004 Sep; 127(Pt 9):2124-30. PubMed ID: 15242882
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
    Ito D; Suzuki N
    Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.
    Chen B; Zheng R; Luan X; Zhang W; Wang Z; Yuan Y
    Neuropathology; 2009 Oct; 29(5):543-7. PubMed ID: 19323790
    [TBL] [Abstract][Full Text] [Related]  

  • 11. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
    van de Warrenburg BP; Scheffer H; van Eijk JJ; Versteeg MH; Kremer H; Zwarts MJ; Schelhaas HJ; van Engelen BG
    Neuromuscul Disord; 2006 Feb; 16(2):122-5. PubMed ID: 16427281
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.
    Cafforio G; Calabrese R; Morelli N; Mancuso M; Piazza S; Martinuzzi A; Bassi MT; Crippa F; Siciliano G
    Neurol Sci; 2008 Jun; 29(3):189-91. PubMed ID: 18612770
    [TBL] [Abstract][Full Text] [Related]  

  • 13. BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.
    Cen Z; Lu X; Wang Z; Ouyang Z; Xie F; Luo W
    J Clin Neurosci; 2015 Feb; 22(2):429-30. PubMed ID: 25487175
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
    Ishihara S; Okamoto Y; Tanabe H; Yoshimura A; Higuchi Y; Yuan JH; Hashiguchi A; Ishiura H; Mitsui J; Suwazono S; Oya Y; Sasaki M; Nakagawa M; Tsuji S; Ohya Y; Takashima H
    J Peripher Nerv Syst; 2020 Jun; 25(2):125-131. PubMed ID: 32108980
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
    Luigetti M; Fabrizi GM; Madia F; Ferrarini M; Conte A; Del Grande A; Tasca G; Tonali PA; Sabatelli M
    J Neurol Sci; 2010 Nov; 298(1-2):114-7. PubMed ID: 20870250
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and electrophysiological features in a French family presenting with seipinopathy.
    Ollivier Y; Magot A; Latour P; Perrier J; Mercier S; Maisonobe T; Péréon Y
    Neuromuscul Disord; 2015 Feb; 25(2):161-4. PubMed ID: 25454168
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.
    Choi BO; Park MH; Chung KW; Woo HM; Koo H; Chung HK; Choi KG; Park KD; Lee HJ; Hyun YS; Koo SK
    Neurogenetics; 2013 Feb; 14(1):35-42. PubMed ID: 23142943
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
    Sevilla T; Cuesta A; Chumillas MJ; Mayordomo F; Pedrola L; Palau F; Vílchez JJ
    Brain; 2003 Sep; 126(Pt 9):2023-33. PubMed ID: 12821518
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD; Kraft GH; Lipe HP; Kenney KL; Sumi SM
    Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
    Hsiao CT; Tsai PC; Lin CC; Liu YT; Huang YH; Liao YC; Huang HW; Lin KP; Soong BW; Lee YC
    PLoS One; 2016; 11(1):e0147677. PubMed ID: 26815532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.