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Items: 1 to 20 of 395

1.

[A family of hereditary motor and sensory neuropathy type I with a mutation (Arg98-->His) in myelin Po--report on a second Japanese family].

Ohnishi A, Kashiwada E, Hashimoto T, Yamamoto T, Murai Y, Ohashi H, Ikegami T, Hayasaka K, Sudo K, Yamamori S.

J UOEH. 1996 Mar 1;18(1):19-29. Japanese.

PMID:
8851708
2.

[A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation].

Ohnishi A, Yoshimura T, Takazawa A, Hashimoto T, Yamamoto T, Fukushima Y.

Rinsho Shinkeigaku. 1995 Aug;35(8):843-9. Japanese.

PMID:
8665724
3.

[A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].

Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y.

Rinsho Shinkeigaku. 1995 Jul;35(7):788-92. Japanese.

PMID:
8777804
4.

[A family of hereditary motor and sensory neuropathy type I with a new type of myelin P0 mutation].

Ohnishi A, Ohnari K, Hashimoto T, Hayasaka K, Yoshimura T, Fukushima Y.

Rinsho Shinkeigaku. 1994 Jun;34(6):546-51. Japanese.

PMID:
7525134
5.

[A case of Charcot-Marie-Tooth disease 1 B with Val 146Phe mutation of myelin protein zero showing a severe clinical phenotype].

Ohnishi A, Aoki A, Yamamoto T, Tsuji S.

Rinsho Shinkeigaku. 2000 Mar;40(3):268-70. Japanese.

PMID:
10885340
6.

Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.

Ohnishi A, Yamamoto T, Yamamori S, Sudo K, Fukushima Y, Ikeda M.

J Neurol Sci. 1999 Dec 15;171(2):97-109.

PMID:
10581375
7.

[A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene].

Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K.

Rinsho Shinkeigaku. 1994 Nov;34(11):1162-7. Review. Japanese.

PMID:
7537189
8.
9.

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D.

Neurogenetics. 2003 Aug;4(4):191-7.

PMID:
12845552
10.

Rare myelin protein zero sequence variant in late onset CMT1B.

Souayah N, Seltzer WK, Brannagan TH, Chin RL, Sander HW.

J Neurol Sci. 2007 Dec 15;263(1-2):177-9.

PMID:
17602703
11.
12.

[A case of hereditary motor and sensory neuropathy type I with optic atrophy, neural deafness and pyramidal tract signs].

Saito T, Nishioka M, Ogino M, Endo K, Kowa H.

Rinsho Shinkeigaku. 1993 May;33(5):519-24. Review. Japanese.

PMID:
8365058
13.
14.

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P.

Brain. 1997 May;120 ( Pt 5):813-23.

PMID:
9183252
15.

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.

PMID:
9124803
16.

[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].

Misu K, Yoshihara T, Yamamoto M, Hattori N, Nagamatu M, Mukai E, Takegami T, Sobue G.

Rinsho Shinkeigaku. 2000 Feb;40(2):149-54. Japanese.

PMID:
10835936
17.

[A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation].

Adachi T, Imaoka K, Shirasawa A, Yamaguchi S, Kobayashi S.

Rinsho Shinkeigaku. 1998 Dec;38(12):1037-41. Review. Japanese.

PMID:
10349345
18.
19.

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

Seeman P, Mazanec R, Ctvrtecková M, Smilková D.

Int J Mol Med. 2001 Oct;8(4):461-8.

PMID:
11562788
20.

[A case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development].

Nakano S, Ohnishi A, Yamamoto T, Oishi T, Murai Y.

Rinsho Shinkeigaku. 1990 Apr;30(4):448-51. Japanese.

PMID:
2387117
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