Literature DB >> 8659534

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

J M Vance, M C Speer, J M Stajich, S West, C Wolpert, P Gaskell, F Lennon, R M Tim, M Rozear, K B Othmane.   

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Year:  1996        PMID： 8659534      PMCID： PMC1915112     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  Perils of gene mapping with microsatellite markers.

Authors:  J A Knowles; V J Vieland; T C Gilliam
Journal:  Am J Hum Genet       Date:  1992-10       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.  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.  Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

Authors:  J M Vance; D Barker; L H Yamaoka; J M Stajich; L Loprest; W Y Hung; K Fischbeck; A D Roses; M A Pericak-Vance
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

5.  Faster sequential genetic linkage computations.

Authors:  R W Cottingham; R M Idury; A A Schäffer
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

6.  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

7.  Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.

Authors:  L J Loprest; M A Pericak-Vance; J Stajich; P C Gaskell; A M Lucas; F Lennon; L H Yamaoka; A D Roses; J M Vance
Journal:  Neurology       Date:  1992-03       Impact factor: 9.910

8.  Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.

Authors:  K Ben Othmane; L T Middleton; L J Loprest; K M Wilkinson; F Lennon; M P Rozear; J M Stajich; P C Gaskell; A D Roses; M A Pericak-Vance
Journal:  Genomics       Date:  1993-08       Impact factor: 5.736

9.  Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Authors:  K Ben Othmane; M Ben Hamida; M A Pericak-Vance; C Ben Hamida; S Blel; S C Carter; A M Bowcock; K Petruhkin; T C Gilliam; A D Roses
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

10.  Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Authors:  K Ben Othmane; F Hentati; F Lennon; C Ben Hamida; S Blel; A D Roses; M A Pericak-Vance; M Ben Hamida; J M Vance
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150
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  9 in total

Review 1.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

2.  Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

Authors:  G A Nicholson; J L Dawkins; I P Blair; M Auer-Grumbach; S B Brahmbhatt; D J Hulme
Journal:  Am J Hum Genet       Date:  2001-07-27       Impact factor: 11.025

Review 3.  Molecular genetics of hereditary sensory neuropathies.

Authors:  Michaela Auer-Grumbach; Barbara Mauko; Piet Auer-Grumbach; Thomas R Pieber
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 4.  Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.

Authors:  Stephan Züchner; Jeffery M Vance
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

Authors:  P De Jonghe; V Timmerman; D FitzPatrick; P Spoelders; J J Martin; C Van Broeckhoven
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-06       Impact factor: 10.154

6.  A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

Authors:  C Kok; M L Kennerson; P J Spring; A J Ing; J D Pollard; G A Nicholson
Journal:  Am J Hum Genet       Date:  2003-07-17       Impact factor: 11.025

Review 7.  Hereditary sensory neuropathy type I.

Authors:  Michaela Auer-Grumbach
Journal:  Orphanet J Rare Dis       Date:  2008-03-18       Impact factor: 4.123

Review 8.  Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

Authors:  Harry Liu; Chengbiao Wu
Journal:  Int J Mol Sci       Date:  2017-02-04       Impact factor: 5.923

9.  Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Authors:  Annelies Rotthier; Jonathan Baets; Els De Vriendt; An Jacobs; Michaela Auer-Grumbach; Nicolas Lévy; Nathalie Bonello-Palot; Sara Sebnem Kilic; Joachim Weis; Andrés Nascimento; Marielle Swinkels; Moyo C Kruyt; Albena Jordanova; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2009-08-03       Impact factor: 13.501
  9 in total

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