157 related articles for article (PubMed ID: 19409521)
1. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Brkanac Z; Spencer D; Shendure J; Robertson PD; Matsushita M; Vu T; Bird TD; Olson MV; Raskind WH
Am J Hum Genet; 2009 May; 84(5):692-7. PubMed ID: 19409521
[TBL] [Abstract][Full Text] [Related]
2. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
Brkanac Z; Fernandez M; Matsushita M; Lipe H; Wolff J; Bird TD; Raskind WH
Am J Med Genet; 2002 May; 114(4):450-7. PubMed ID: 11992570
[TBL] [Abstract][Full Text] [Related]
3. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
Lin P; Zhang D; Xu G; Yan C
J Hum Genet; 2018 Apr; 63(4):521-524. PubMed ID: 29362493
[TBL] [Abstract][Full Text] [Related]
4. Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes.
Buanne P; Incerti B; Guardavaccaro D; Avvantaggiato V; Simeone A; Tirone F
Genomics; 1998 Jul; 51(2):233-42. PubMed ID: 9722946
[TBL] [Abstract][Full Text] [Related]
5. Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.
Hantke J; Rogers T; French L; Tournev I; Guergueltcheva V; Urtizberea JA; Colomer J; Corches A; Lupu C; Merlini L; Thomas PK; Kalaydjieva L
Neuromuscul Disord; 2003 Nov; 13(9):729-36. PubMed ID: 14561496
[TBL] [Abstract][Full Text] [Related]
6. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Tsai PC; Soong BW; Mademan I; Huang YH; Liu CR; Hsiao CT; Wu HT; Liu TT; Liu YT; Tseng YT; Lin KP; Yang UC; Chung KW; Choi BO; Nicholson GA; Kennerson ML; Chan CC; De Jonghe P; Cheng TH; Liao YC; Züchner S; Baets J; Lee YC
Brain; 2017 May; 140(5):1252-1266. PubMed ID: 28369220
[TBL] [Abstract][Full Text] [Related]
7. Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
Bouhouche A; Benomar A; Bouslam N; Chkili T; Yahyaoui M
J Med Genet; 2006 May; 43(5):441-3. PubMed ID: 16399879
[TBL] [Abstract][Full Text] [Related]
8. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
Tétreault M; Gonzalez M; Dicaire MJ; Allard P; Gehring K; Leblanc D; Leclerc N; Schondorf R; Mathieu J; Zuchner S; Brais B
Brain; 2015 Jun; 138(Pt 6):1477-83. PubMed ID: 25818867
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24.
Beuten J; De Vriendt E; De Jonghe P; Martin JJ; Van Broeckhoven C; Timmerman V
Neurosci Lett; 1997 Feb; 223(1):69-71. PubMed ID: 9058425
[TBL] [Abstract][Full Text] [Related]
10. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
11. Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol; 2004; 57():228-42. PubMed ID: 16106622
[TBL] [Abstract][Full Text] [Related]
12. Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.
Jedlickova K; Stockton DW; Prchal JT
Blood Cells Mol Dis; 2003; 31(3):327-31. PubMed ID: 14636647
[TBL] [Abstract][Full Text] [Related]
13. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
Hantke J; Chandler D; King R; Wanders RJ; Angelicheva D; Tournev I; McNamara E; Kwa M; Guergueltcheva V; Kaneva R; Baas F; Kalaydjieva L
Eur J Hum Genet; 2009 Dec; 17(12):1606-14. PubMed ID: 19536174
[TBL] [Abstract][Full Text] [Related]
14. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K; Müller-Felber W; Gläser D; Kuhn M; Teusch V; Schreiber H; Weis J; Klepper J; Schirmacher A; Blaschek A; Wiessner M; Strom TM; Dräger B; Hofmeister-Kiltz K; Tacke M; Gerstl L; Young P; Horvath R; Senderek J
Hum Genet; 2018 Dec; 137(11-12):911-919. PubMed ID: 30460542
[TBL] [Abstract][Full Text] [Related]
15. A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.
Holmes SE; Wentzell JS; Seixas AI; Callahan C; Silveira I; Ross CA; Margolis RL
Hum Genet; 2006 Sep; 120(2):193-200. PubMed ID: 16783570
[TBL] [Abstract][Full Text] [Related]
16. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.
Takashima H; Nakagawa M; Suehara M; Saito M; Saito A; Kanzato N; Matsuzaki T; Hirata K; Terwilliger JD; Osame M
Neuromuscul Disord; 1999 Oct; 9(6-7):368-71. PubMed ID: 10545038
[TBL] [Abstract][Full Text] [Related]
17. Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
Passamonti L; Muglia M; Magariello A; Bellesi M; Conforti FL; Mazzei R; Patitucci A; Gabriele AL; Sprovieri T; Peluso G; Caracciolo M; Medici E; Logullo F; Provinciali L; Quattrone A
Neuromuscul Disord; 2004 Nov; 14(11):705-10. PubMed ID: 15482954
[TBL] [Abstract][Full Text] [Related]
18. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
Houlden H; King RH; Wood NW; Thomas PK; Reilly MM
Brain; 2001 May; 124(Pt 5):907-15. PubMed ID: 11335693
[TBL] [Abstract][Full Text] [Related]
20. Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.
Mariman EC; Gabreëls-Festen AA; van Beersum SE; Jongen PJ; Ropers HH; Gabreëls FJ
Hum Genet; 1993 Aug; 92(1):87-90. PubMed ID: 8396068
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]