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congenital neuropathy

Neuropathy, the cause of which is present at birth.
National Institutes of Health

Related topics

Related topics

2 relations
Nervous system structurePeripheral Nerves

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy that presents in the neonatal period and has been… 
2015
2015
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
Objective: To identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32… 
2015
2015
PP09.10 – 2510: A novel case of periaxin-related neuropathy associated with cataract: Expanding the clinical and molecular spectrum of perxiaxin mutation
Review
2013
Review
2013
Management of Charcot Arthropathy
INTRODUCTION Neuropathic arthropathy (or neuropathic osteoarthropathy), also known as Charcot joint (often "Charcot foot… 
2004
2004
A novel MPZ gene mutation in congenital neuropathy with hypomyelination
Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an… 
2004
2004
Congenital neuropathy with prevailing axonal changes
SummaryA case of congenital neuropathy associated with an unclassified chronic brain disorder is described.Morphological findings… 
1989
1989
Congenital hypomyelination with axonopathy
We report a case of congenital neuropathy taking a rapidly fatal clinical course. Ultrastructural features of the peripheral… 
1986
1986
A case of congenital non-progressive sensory neuropathy with tonic pupils.
One case of a non-progressive congenital neuropathy is reported. Clinical findings included subtotal analgesia, and diminished… 
1985
1985
[Schwann cell pathology and axonal reduction in a case of congenital neuropathy with hypomyelinization].
A case of congenital dysmyelinating neuropathy is reported, in which computerised morphological analysis showed a prominent loss… 
1975
1975
Congenital neuropathic bladder: practicalities and possibilities of conservational management.
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