Literature DB >> 4087003

Congenital hypomyelinating neuropathy.

Y Harati, I J Butler.   

Abstract

Two patients with congenital hypomyelinating neuropathy are reported with details of sural nerve pathology. The resemblance of this condition to the hypomyelinating neuropathy of Trembler mice is discussed and the pertinent medical literature reviewed.

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Year:  1985        PMID： 4087003      PMCID： PMC1028613          DOI： 10.1136/jnnp.48.12.1269

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  14 in total

1.  Infantile polyneuropathy with defective myelination: an autopsy study.

Authors:  S B Karch; H Urich
Journal:  Dev Med Child Neurol       Date:  1975-08       Impact factor: 5.449

2.  A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies.

Authors:  W R Kennedy; J H Sung; J F Berry
Journal:  Arch Neurol       Date:  1977-06

3.  Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence.

Authors:  M Kasman; L Bernstein; S Schulman
Journal:  Neurology       Date:  1976-06       Impact factor: 9.910

4.  Hypertrophic interstitial polyneuropathy in infancy. Clinical and pathologic features in two cases.

Authors:  R M Anderson; X Dennett; I J Hopkins; L K Shield
Journal:  J Pediatr       Date:  1973-04       Impact factor: 4.406

5.  Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy.

Authors:  G Lyon
Journal:  Acta Neuropathol       Date:  1969       Impact factor: 17.088

6.  Specialized paranodal and interparanodal glial-axonal junctions in the peripheral and central nervous system: a freeze-etching study.

Authors:  R B Livingston; K Pfenniger; H Moor; K Akert
Journal:  Brain Res       Date:  1973-08-17       Impact factor: 3.252

7.  [A case of neonatal peripheral polyneuritis due to demyelination].

Authors:  C Palix; J Coignet
Journal:  Pediatrie       Date:  1978-03

8.  Chronic neuropathy presenting as a floppy infant with respiratory distress.

Authors:  R B Moss; S Sriram; K A Kelts; L S Forno; N J Lewiston
Journal:  Pediatrics       Date:  1979-10       Impact factor: 7.124

9.  Connatal polyneuropathy -- a case with proliferated microfilaments in Schwann cells.

Authors:  J Ulrich; H R Hirt; P Kleihues; M Oberholzer
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

10.  Congenital hypomyelination neuropathy in a newborn.

Authors:  S Hakamada; T Kumagai; K Hara; S Miyazaki; K Miyazaki; K Watanabe
Journal:  Neuropediatrics       Date:  1983-08       Impact factor: 1.947
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  8 in total

1.  Variability of morphological features in early infantile polyneuropathy with defective myelination.

Authors:  A Vital; C Vital; J P Riviere; C Brechenmacher; J Marot
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

2.  Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.

Authors:  Alexandra N Scurry; Dante J Heredia; Cheng-Yuan Feng; Gregory B Gephart; Grant W Hennig; Thomas W Gould
Journal:  J Neuropathol Exp Neurol       Date:  2016-02-25       Impact factor: 3.685

3.  Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Authors:  Mehrdad Khajavi; Ken Inoue; Wojciech Wiszniewski; Tomoko Ohyama; G Jackson Snipes; James R Lupski
Journal:  Am J Hum Genet       Date:  2005-09-30       Impact factor: 11.025

4.  Congenital hypomyelination with axonopathy.

Authors:  A Vital; C Vital; M Coquet; X Hernandorena; J M Demarquez
Journal:  Eur J Pediatr       Date:  1989-02       Impact factor: 3.183

5.  Congenital hypo- and hypermyelination neuropathy. Two cases.

Authors:  J M Vallat; R Gil; M J Leboutet; J Hugon; D Moulies
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

Review 6.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 7.  Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.

Authors:  Anneke Gabreëls-Festen
Journal:  J Anat       Date:  2002-04       Impact factor: 2.610

8.  P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves.

Authors:  L Wrabetz; M L Feltri; A Quattrini; D Imperiale; S Previtali; M D'Antonio; R Martini; X Yin; B D Trapp; L Zhou; S Y Chiu; A Messing
Journal:  J Cell Biol       Date:  2000-03-06       Impact factor: 10.539
  8 in total

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