Literature DB >> 1999826

Hereditary motor and sensory neuropathies.

J M Vance1.   

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Year:  1991        PMID： 1999826      PMCID： PMC1016739          DOI： 10.1136/jmg.28.1.1

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


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  26 in total

1.  Sequential tests for the detection of linkage.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1955-09       Impact factor: 11.025

2.  X-linked neuropathy: gene localization with DNA probes.

Authors:  K H Fischbeck; N ar-Rushdi; M Pericak-Vance; M Rozear; A D Roses; J P Fryns
Journal:  Ann Neurol       Date:  1986-10       Impact factor: 10.422

3.  Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I).

Authors:  V Ionasescu; J C Murray; T L Burns; R Ionasescu; R Ferrell; C Searby; J Chirgwin
Journal:  J Neurol Sci       Date:  1987-08       Impact factor: 3.181

4.  The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.

Authors:  R A Ouvrier; J G McLeod; T E Conchin
Journal:  Brain       Date:  1987-02       Impact factor: 13.501

5.  Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.

Authors:  P J Dyck; J Ott; S B Moore; C J Swanson; E H Lambert
Journal:  Mayo Clin Proc       Date:  1983-07       Impact factor: 7.616

6.  Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).

Authors:  T D Bird; J Ott; E R Giblett; P F Chance; S M Sumi; G H Kraft
Journal:  Ann Neurol       Date:  1983-12       Impact factor: 10.422

7.  Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form.

Authors:  A Rossi; C Paradiso; R Cioni; N Rizzuto; G Guazzi
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

8.  Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type.

Authors:  L Gutmann; A Fakadej; J E Riggs
Journal:  Muscle Nerve       Date:  1983-09       Impact factor: 3.217

9.  Pooled European series of hereditary peripheral neuropathies in infancy and childhood. A "correspondence work shop" report of the European Federation of Child Neurology Societies (EFCNS).

Authors:  B Hagberg; G Lyon
Journal:  Neuropediatrics       Date:  1981-02       Impact factor: 1.947

10.  Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.

Authors:  R J Guiloff; P K Thomas; M Contreras; S Armitage; G Schwarz; E M Sedgwick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154
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  10 in total

1.  Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Authors:  N G Laing; B T Majda; P A Akkari; M G Layton; J C Mulley; H Phillips; E A Haan; S J White; A H Beggs; L M Kunkel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

Review 2.  Charcot-Marie-Tooth disease type 1.

Authors:  S Malcolm
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

3.  Phenotypic heterogeneity and the single gene.

Authors:  G K Suthers; K E Davies
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

4.  Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

Authors:  C Ressot; D Gomès; A Dautigny; D Pham-Dinh; R Bruzzone
Journal:  J Neurosci       Date:  1998-06-01       Impact factor: 6.167

Review 5.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

6.  Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

Authors:  J C MacMillan; M Upadhyaya; P S Harper
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

7.  A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

Authors:  Pooja Pravinbabu; Vikram V Holla; Prashant Phulpagar; Nitish Kamble; Manjunath Netravathi; Ravi Yadav; Pramod Kumar Pal; Babylakshmi Muthusamy
Journal:  Neurol Sci       Date:  2022-02-11       Impact factor: 3.307

8.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

9.  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

Review 10.  What's the Function of Connexin 32 in the Peripheral Nervous System?

Authors:  Mario Bortolozzi
Journal:  Front Mol Neurosci       Date:  2018-07-10       Impact factor: 5.639
  10 in total

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