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CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D

Known as: Neuropathy, hereditary motor and sensory, LOM type, HMSN4D, CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal recessive inheritanceFoot DeformitiesHand deformitiesNDRG1 wt Allele

Broader (2)

Charcot-Marie-Tooth DiseaseRefsum Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Recent Advances in 4D Bioprinting
4D bioprinting has emerged as a powerful technique where the fourth dimension “time” is incorporated with 3D bioprinting. In this… 
Review
2019
Review
2019
4D Bioprinting: Technological Advances in Biofabrication.
The development of the three-dimensional (3D) printer has resulted in significant advances in a number of fields, including rapid… 
2017
2017
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot‐Marie‐Tooth disease type 4D
Charcot‐Marie‐Tooth disease type 4D (CMT4D) is an autosomal‐recessive demyelinating form of CMT characterized by a severe distal… 
Highly Cited
2011
Highly Cited
2011
Ndrg1 in development and maintenance of the myelin sheath
Highly Cited
2009
Highly Cited
2009
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and…
Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of… 
2005
2005
NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.
Highly Cited
2003
Highly Cited
2003
An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the deregulation of a number of genes, including IGF2… 
Highly Cited
2000
Highly Cited
2000
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events involving… 
Highly Cited
2000
Highly Cited
2000
Salazar, Gabriel; Pinto, Julio. Historia contemporánea de Chile: Tomos I y II, Santiago de Chile: LOM Ediciones, 1999
Highly Cited
1957
Highly Cited
1957
The biochemistry of the nitrifying organisms. V. Nitrite oxidation by Nitrobacter.
Growth of the organisms. Nitrobacter was obtained from an Aberdeen garden soil by serial subculture in a medium made up as… 
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