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ProteomicsMultifocal demyelinating motor neuropathy associated with a de novo PTEN mutation
Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene associated with inherited tumour susceptibility conditions, macrocephaly, autism, ataxia, tremor and epilepsy. Functional implications of this protein have been investigated in Parkinson’s and Alzheimer’s diseases. We describe the fir...
ORGANISM(S): Homo sapiens (Human) 
2018-10-22 | PXD008014 | Pride
Pten Demyelinating motor neuropathy 
TranscriptomicsExpression data from a Charcot-Marie-Tooth 1B neuropathy mouse model
We have generated mouse models of real CMT1B mutations in the gene encoding for myelin protein zero (P0). One of these mutants, P0S63del is retained in the ER where it elicits an unfolded protein response (UPR). Genetic ablation of the UPR factor CHOP restores the motor capacity in S63del mice. We u...
ORGANISM(S): Mus musculus 
2013-05-01 | E-GEOD-40610 | biostudies-arrayexpress
ProteomicsKIF1A Motor-Neck domain interaction
Quantitative Analysis of Motor-Neck Interaction by the Combination of Protein Painting and Stable Isotope Tags Labelling
ORGANISM(S): Sus Scrofa 
2021-12-23 | PXD026083 | JPOST Repository
TranscriptomicsTranscription profiling of human Schwann cells FROM HMSN1A, HMSN-LOM AND congenital cateracts facial dysmophism neuropathy (CCFDN) syndrome TO identify down-stream effects IN demyelinating neuropathies
Hereditary Motor and Sensory Neuropathies (HMSN) are the most common inherited peripheral neuropathies and comprise a group of genetically heterogeneous diseases. We study the genetic defects causing three demyelinating disorders: HMSN1A, HMSN-LOM and congenital cateracts facial dysmophism neuropath...
ORGANISM(S): Homo sapiens 
2008-04-05 | E-GEOD-7423 | biostudies-arrayexpress
ProteomicsThe pathogenesis of Guillain-Barre syndrome: immunological profiling of physiological fluids
Acute inflammatory demyelinating polyneuropathy (AIDP) - one of the forms of Guillain-Barre syndrome (GBS) - is a rare and severe disorder of the peripheral nervous system that also has an unknown etiology. One of the hallmarks of AIDP pathogenesis is a significantly elevated cerebrospinal fluid (CS...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-07-20 | MSV000079941 | MassIVE
ProteomicsThe pathogenesis of Guillain-Barre syndrome: peptidomic profiling of physiological fluids
Acute inflammatory demyelinating polyneuropathy (AIDP) - one of the forms of Guillain-Barre syndrome (GBS) - is a rare and severe disorder of the peripheral nervous system that also has an unknown etiology. One of the hallmarks of AIDP pathogenesis is a significantly elevated cerebrospinal fluid (CS...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-07-20 | MSV000079963 | MassIVE
UnknownMultifocal motor neuropathy, multifocal acquired demyelinating sensory and motor neuropathy, and other chronic acquired demyelinating polyneuropathy variants.
Not available
S-EPMC4098937 | biostudies-literature
UnknownSerum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy.
Not available
S-EPMC6848485 | biostudies-literature
UnknownOffice immunotherapy in chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy.
Not available
S-EPMC4621010 | biostudies-literature
UnknownMultifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.
Not available
S-EPMC5962916 | biostudies-literature
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