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Results: 1 to 20 of 496

1.

[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
[PubMed - indexed for MEDLINE]
2.

[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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

[Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)].

Akimoto C, Morita M, Yamamoto M, Nakano I.

Rinsho Shinkeigaku. 2010 Jun;50(6):399-403. Japanese.

PMID:
20593665
[PubMed - indexed for MEDLINE]
7.

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P.

Neurology. 1998 Apr;50(4):1074-82.

PMID:
9566397
[PubMed - indexed for MEDLINE]
8.

X-linked dominant hereditary motor and sensory neuropathy.

Hahn AF, Brown WF, Koopman WJ, Feasby TE.

Brain. 1990 Oct;113 ( Pt 5):1511-25.

PMID:
2245309
[PubMed - indexed for MEDLINE]
9.

[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
[PubMed - indexed for MEDLINE]
10.

[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
[PubMed - indexed for MEDLINE]
11.

[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
[PubMed - indexed for MEDLINE]
12.

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M.

Neurology. 1996 May;46(5):1318-24.

PMID:
8628474
[PubMed - indexed for MEDLINE]
13.

[Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)].

Ohnishi A.

Rinsho Shinkeigaku. 1995 Dec;35(12):1438-40. Review. Japanese.

PMID:
8752423
[PubMed - indexed for MEDLINE]
14.

[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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

[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
[PubMed - indexed for MEDLINE]
17.

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.

J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9.

PMID:
10406984
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[Clinical report of hereditary motor and sensory neuropathy with proximal dominance in Shiga prefecture].

Takahashi M, Mitsui Y, Yorifuji S, Nakamura Y, Tsukamoto Y, Nishimoto K.

Rinsho Shinkeigaku. 2007 Sep;47(9):571-6. Japanese.

PMID:
18018614
[PubMed - indexed for MEDLINE]
19.

[A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy].

Matsuoka T, Furuya H, Ikezoe K, Murai H, Ohyagi Y, Yoshiura T, Sasaki M, Tobimatsu S, Kira J.

Rinsho Shinkeigaku. 2004 Jan;44(1):43-9. Review. Japanese.

PMID:
15199738
[PubMed - indexed for MEDLINE]
20.

[An unusual case of peroneal muscular atrophy with rigidity, polyneuropathy, mental retardation, and diabetes mellitus developed in familial Parkinson's disease].

Saito T, Hosoda M, Aoto K, Hasegawa H, Kowa H.

Rinsho Shinkeigaku. 1995 Aug;35(8):878-83. Japanese.

PMID:
8665730
[PubMed - indexed for MEDLINE]

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