BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 10441578)

  • 21. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.
    Bolino A; Brancolini V; Bono F; Bruni A; Gambardella A; Romeo G; Quattrone A; Devoto M
    Hum Mol Genet; 1996 Jul; 5(7):1051-4. PubMed ID: 8817346
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
    Nicolaou P; Cianchetti C; Minaidou A; Marrosu G; Zamba-Papanicolaou E; Middleton L; Christodoulou K
    Eur J Hum Genet; 2013 Feb; 21(2):190-4. PubMed ID: 22781092
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A.
    Saito M; Hayashi Y; Suzuki T; Tanaka H; Hozumi I; Tsuji S
    Neurology; 1997 Dec; 49(6):1630-5. PubMed ID: 9409358
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.
    Yoshioka R; Dyck PJ; Chance PF
    Neurology; 1996 Feb; 46(2):569-71. PubMed ID: 8614538
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
    Bernard R; De Sandre-Giovannoli A; Delague V; Lévy N
    Neuromolecular Med; 2006; 8(1-2):87-106. PubMed ID: 16775369
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
    Azzedine H; Bolino A; Taïeb T; Birouk N; Di Duca M; Bouhouche A; Benamou S; Mrabet A; Hammadouche T; Chkili T; Gouider R; Ravazzolo R; Brice A; Laporte J; LeGuern E
    Am J Hum Genet; 2003 May; 72(5):1141-53. PubMed ID: 12687498
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.
    Timmerman V; Raeymaekers P; Nelis E; De Jonghe P; Muylle L; Ceuterick C; Martin JJ; Van Broeckhoven C
    J Neurol Sci; 1992 May; 109(1):41-8. PubMed ID: 1517763
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
    Kessali M; Zemmouri R; Guilbot A; Maisonobe T; Brice A; LeGuern E; Grid D
    Neurology; 1997 Apr; 48(4):867-73. PubMed ID: 9109869
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
    Berghoff C; Berghoff M; Leal A; Morera B; Barrantes R; Reis A; Neundörfer B; Rautenstrauss B; Del Valle G; Heuss D
    Neuromuscul Disord; 2004 May; 14(5):301-6. PubMed ID: 15099588
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
    Chaouch M; Allal Y; De Sandre-Giovannoli A; Vallat JM; Amer-el-Khedoud A; Kassouri N; Chaouch A; Sindou P; Hammadouche T; Tazir M; Lévy N; Grid D
    Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
    Ionasescu VV; Trofatter J; Haines JL; Summers AM; Ionasescu R; Searby C
    Am J Hum Genet; 1991 Jun; 48(6):1075-83. PubMed ID: 1674639
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
    Street VA; Goldy JD; Golden AS; Tempel BL; Bird TD; Chance PF
    Am J Hum Genet; 2002 Jan; 70(1):244-50. PubMed ID: 11713717
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
    Tey S; Shahrizaila N; Drew AP; Samulong S; Goh KJ; Battaloglu E; Atkinson D; Parman Y; Jordanova A; Chung KW; Choi BO; Li YC; Auer-Grumbach M; Nicholson GA; Kennerson ML; Ahmad-Annuar A
    Neurogenetics; 2019 Aug; 20(3):117-127. PubMed ID: 31011849
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
    Chance PF; Bird TD; O'Connell P; Lipe H; Lalouel JM; Leppert M
    Am J Hum Genet; 1990 Dec; 47(6):915-25. PubMed ID: 2239969
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Charcot-Marie-Tooth neuropathy related to chromosome 1.
    Ionasescu VV; Trofatter J; Haines JL; Ionasescu R; Searby C
    Am J Med Genet; 1992 Mar; 42(5):728-32. PubMed ID: 1632448
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
    Raeymaekers P; Timmerman V; De Jonghe P; Swerts L; Gheuens J; Martin JJ; Muylle L; De Winter G; Vandenberghe A; Van Broeckhoven C
    Am J Hum Genet; 1989 Dec; 45(6):953-8. PubMed ID: 2589322
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.
    Ben Othmane K; Middleton LT; Loprest LJ; Wilkinson KM; Lennon F; Rozear MP; Stajich JM; Gaskell PC; Roses AD; Pericak-Vance MA
    Genomics; 1993 Aug; 17(2):370-5. PubMed ID: 8406488
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.
    Loprest LJ; Pericak-Vance MA; Stajich J; Gaskell PC; Lucas AM; Lennon F; Yamaoka LH; Roses AD; Vance JM
    Neurology; 1992 Mar; 42(3 Pt 1):597-601. PubMed ID: 1549221
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.
    Kochanski A; Kennerson M; Kawulak M; Ryniewicz B; Rowinska-Marcinska K; Walizada G; Nowakowski A; Hausmanowa-Petrusewicz I; Nicholson GA
    Neurology; 2005 Feb; 64(3):533-5. PubMed ID: 15699389
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
    Tamiya G; Makino S; Hayashi M; Abe A; Numakura C; Ueki M; Tanaka A; Ito C; Toshimori K; Ogawa N; Terashima T; Maegawa H; Yanagisawa D; Tooyama I; Tada M; Onodera O; Hayasaka K
    Am J Hum Genet; 2014 Sep; 95(3):294-300. PubMed ID: 25152455
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.