King RH - Search Results

1

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.

Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L. Colomer J, et al. Among authors: king rh. Neuromuscul Disord. 2006 Jul;16(7):449-53. doi: 10.1016/j.nmd.2006.05.005. Epub 2006 Jun 27. Neuromuscul Disord. 2006. PMID: 16806930

2

Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies.

Colomer J, Iturriaga C, Kalaydjieva L, Angelicheva D, King RH, Thomas PK. Colomer J, et al. Among authors: king rh. Neuromuscul Disord. 2000 Dec;10(8):578-83. doi: 10.1016/s0960-8966(00)00149-8. Neuromuscul Disord. 2000. PMID: 11053685

3

Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.

Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Urtizberea JA, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. Chandler D, et al. Among authors: king rh. Neuromuscul Disord. 2000 Dec;10(8):584-91. doi: 10.1016/s0960-8966(00)00148-6. Neuromuscul Disord. 2000. PMID: 11053686 Free article.

4

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. Houlden H, et al. Among authors: king rh. Neuromuscul Disord. 2009 Apr;19(4):264-9. doi: 10.1016/j.nmd.2009.01.006. Epub 2009 Mar 9. Neuromuscul Disord. 2009. PMID: 19272779

5

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. Kalaydjieva L, et al. Among authors: king rh. Am J Hum Genet. 2000 Jul;67(1):47-58. doi: 10.1086/302978. Epub 2000 May 30. Am J Hum Genet. 2000. PMID: 10831399 Free PMC article.

6

Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.

Thomas PK, Kalaydjieva L, Youl B, Rogers T, Angelicheva D, King RH, Guergueltcheva V, Colomer J, Lupu C, Corches A, Popa G, Merlini L, Shmarov A, Muddle JR, Nourallah M, Tournev I. Thomas PK, et al. Among authors: king rh. Ann Neurol. 2001 Oct;50(4):452-7. doi: 10.1002/ana.1137. Ann Neurol. 2001. PMID: 11601496

7

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.

Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Kalaydjieva L, et al. Among authors: king rh. Nat Genet. 1996 Oct;14(2):214-7. doi: 10.1038/ng1096-214. Nat Genet. 1996. PMID: 8841199

8

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D.

Chandler D, Lopaticki S, Huang D, Hunter M, Angelicheva D, Kilpatrick T, King RH, Kalaydjieva L, Morahan G. Chandler D, et al. Among authors: king rh. F1000Res. 2013 Feb 13;2:46. doi: 10.12688/f1000research.2-46.v1. eCollection 2013. F1000Res. 2013. PMID: 24715951 Free PMC article.

9

Ndrg1 in development and maintenance of the myelin sheath.

King RH, Chandler D, Lopaticki S, Huang D, Blake J, Muddle JR, Kilpatrick T, Nourallah M, Miyata T, Okuda T, Carter KW, Hunter M, Angelicheva D, Morahan G, Kalaydjieva L. King RH, et al. Neurobiol Dis. 2011 Jun;42(3):368-80. doi: 10.1016/j.nbd.2011.01.030. Epub 2011 Feb 12. Neurobiol Dis. 2011. PMID: 21303696

10

Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom.

King RH, Tournev I, Colomer J, Merlini L, Kalaydjieva L, Thomas PK. King RH, et al. Neuropathol Appl Neurobiol. 1999 Aug;25(4):306-12. doi: 10.1046/j.1365-2990.1999.00174.x. Neuropathol Appl Neurobiol. 1999. PMID: 10476047

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