Literature DB >> 1552540

Charcot-Marie-Tooth disease type 1.

S Malcolm1.   

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Year:  1992        PMID： 1552540      PMCID： PMC1015811          DOI： 10.1136/jmg.29.1.3

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

Review 1.  Hereditary motor and sensory neuropathies.

Authors:  J M Vance
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

2.  Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Authors:  P I Patel; B Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; D H Ledbetter; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

3.  Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.

Authors:  M P Rozear; M A Pericak-Vance; K Fischbeck; J M Stajich; P C Gaskell; D A Krendel; D G Graham; D V Dawson; A D Roses
Journal:  Neurology       Date:  1987-09       Impact factor: 9.910

4.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors:  J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal:  Cell       Date:  1991-07-26       Impact factor: 41.582

5.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

6.  Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies.

Authors:  G A Nicholson
Journal:  Neurology       Date:  1991-04       Impact factor: 9.910

7.  Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Authors:  P Raeymaekers; V Timmerman; P De Jonghe; L Swerts; J Gheuens; J J Martin; L Muylle; G De Winter; A Vandenberghe; C Van Broeckhoven
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

8.  Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.

Authors:  J M Vance; G A Nicholson; L H Yamaoka; J Stajich; C S Stewart; M C Speer; W Y Hung; A D Roses; D Barker; M A Pericak-Vance
Journal:  Exp Neurol       Date:  1989-05       Impact factor: 5.330

9.  Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

Authors:  H R Middleton-Price; A E Harding; C Monteiro; J Berciano; S Malcolm
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

10.  Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; P De Jonghe; J E Hoogendijk; F Baas; D F Barker; J J Martin; M De Visser; P A Bolhuis
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296
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  1 in total

1.  Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

Authors:  M Upadhyaya; S H Roberts; J Farnham; J C MacMillan; A Clarke; J P Heath; I C Hodges; P S Harper
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
  1 in total

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