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SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1

Known as: Neuronopathy, Distal Hereditary Motor, Type VI, Distal Hereditary Motor Neuronopathy Type Vi, HMN VI 
National Institutes of Health

Related topics

Related topics

12 relations
Autosomal recessive inheritanceCongenital clubfootConstipationDecreased fetal movement

Broader (2)

Respiratory Distress Syndrome, NewbornSpinal Muscular Atrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Diseases of the Peripheral Nervous System
The disorders of the peripheral nervous system become important in the ICU either as a cause for the child to be admitted or as a… 
2013
2013
Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare motor neuron disease that can result in dysautonomia… 
2012
2012
Heterogeneity in spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in… 
2010
2010
Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.
2007
2007
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
2006
2006
Mutation of gene in spinal muscular atrophy respiratory distress type I.
2004
2004
‘Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)’
‘Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory… 
2000
2000
Diaphragmatic spinal muscular atrophy with bulbar weakness.
We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child… 
2000
2000
Hereditary Peripheral Neuropathies
1992
1992
Zidovudine myopathy
To the Editor: We read the article by Chalmers e t all on zidovudine myopathy with interest, but as far as we can ascertain, it… 
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