|1.||De Jonghe, Peter: 3 articles (09/2011 - 03/2002)|
|2.||Fabrizi, Gian Maria: 3 articles (09/2011 - 09/2002)|
|3.||Timmerman, Vincent: 3 articles (09/2011 - 03/2002)|
|4.||Lupski, James R: 3 articles (09/2007 - 06/2002)|
|5.||Shi, Yawei: 2 articles (11/2015 - 01/2014)|
|6.||Shiga, Kensuke: 2 articles (06/2012 - 09/2007)|
|7.||Takashima, Hiroshi: 2 articles (06/2012 - 06/2002)|
|8.||Khajavi, Mehrdad: 2 articles (09/2007 - 11/2005)|
|9.||Snipes, G Jackson: 2 articles (09/2007 - 11/2005)|
|10.||Wiszniewski, Wojciech: 2 articles (09/2007 - 11/2005)|
09/01/2002 - "In a patient affected with a slowly progressive, severe form of Dejerine-Sottas syndrome, symmetric enlargement of cranial nerves and focal hypertrophy of cervical and caudal roots were detected following MRI. "
09/01/2002 - "Conus medulla-cauda compression from nerve root hypertrophy in a child with Dejerine-Sottas syndrome: improvement with laminectomy and duraplasty. "
|2.||Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
10/07/2015 - "Mutationsassociated with MPZ gene leads to severe de-hypomyelination Dejerine-Sottas syndrome type B (DSSB) also termed as Charcot-Marie-Tooth disease (CMT) type 3. In this work, we employed a set of various in silico prediction methods to screen 97 nsSNPs associated with MPZ gene. "
06/01/2012 - "Mutations of the early growth response 2 (EGR2) gene have been reported in a variety of severe demyelinating neuropathies such as autosomal recessive congenital hypomyelinating neuropathy, autosomal dominant child-onset Dejerine-Sottas neuropathy, and autosomal dominant adult-onset Charcot-Marie-Tooth disease (CMT). "
03/01/2002 - "Dominant and recessive mutations in EGR2 are associated with peripheral myelinopathies, such as Charcot-Marie-Tooth disease type 1, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. "
06/01/1976 - "The disorder in these children and in a few similar cases in the literature shares some features of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Dejerine-Sottas, but it is difficult to classify as either of these familial neuropathies as presently defined. "
09/01/2007 - "Mutations in myelin genes cause inherited peripheral neuropathies that range in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-Sottas neuropathy and congenital hypomyelinating neuropathy. "
|3.||Peripheral Nervous System Diseases (PNS Diseases)
01/21/2005 - "Missense point mutations in Gas3/PMP22 are responsible for the peripheral neuropathies Charcot-Marie-Tooth 1A and Dejerine Sottas syndrome. "
09/01/2000 - "Point mutations in the gas3/PMP22 gene account for the dominant inherited peripheral neuropathies Charcot-Marie-Tooth type 1A disease (CMT1A) and Dejerine-Sottas syndrome (DSS). "
07/01/1999 - "Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy. "
06/10/1999 - "To determine the frequency of EGR2 mutations in patients with a diagnosis of CMT1, Dejerine-Sottas syndrome (DSS), or unspecified peripheral neuropathies. "
01/01/1997 - "Dejerine-Sottas syndrome (DSS), a severe demyelinating peripheral neuropathy with onset in infancy, has been associated with mutations in either PMP22 or MPZ. "
07/08/1999 - "The gas3/PMP22 gene is highly expressed in Schwann cells of the peripheral nervous system, and different alterations of this gene are associated with hereditary demyelinating neuropathies, such as the Charcot-Marie-Tooth type 1A, the Dejerine-Sottas syndrome and the Hereditary Liability to Pressure Palsies (HNPP).Here, we report on the identification of at least one member of the Gas3/PMP22 family in the nematode C. "
01/01/1998 - "Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot-Marie-Tooth (CMT) disease types 1 and 2, Dejerine-Sottas syndrome (DSS), and hereditary neuropathy with liability to pressure palsies (HNPP). "
01/01/1999 - "This group of disorders includes hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. "
01/01/1999 - "To date, a genetic defect in one of these genes has been identified in over 1,000 unrelated patients manifesting a wide range of phenotypes, i.e., Charcot-Marie-Tooth disease type 1 (CMT1) and type 2 (CMT2), Dejerine-Sottas syndrome (DSS), hereditary neuropathy with liability to pressure palsies (HNPP), and congenital hypomyelination (CH). "
01/01/2011 - "Hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie Tooth disease type 1A (CMT1A), Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy are all associated with defects in PMP22 gene. "
|5.||Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
09/01/2011 - "Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. "
06/01/1999 - "Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis."
12/01/1995 - "Dejerine-Sottas disease (HMSN3) has been considered as another demyelinating disease. "
01/01/2013 - "In 3 SAMP strains (SAMP3, SAMP10, and SAMP11), we identified a p.R167C missense mutation in the Prx gene, in which mutations causing hereditary motor and sensory neuropathy (Dejerine-Sottas syndrome) have been identified. "
01/02/1998 - "Motor and sensory neuropathies with the clinical features of HMSN III (Dejerine-Sottas syndrome, DSS) are etiologically related to heterozygous mutations in either peripheral myelin protein-22 (PMP22) or myelin protein zero (MPZ). "
|2.||Myelin P0 Protein (Myelin Protein Zero)
|3.||Type 1A demyelinating Charcot-Marie-Tooth disease
|4.||Transcription Factors (Transcription Factor)
|5.||Type 1B Charcot-Marie-Tooth disease