A SPORADIC CASE OF PRESUMED PELIZAEUS-MERZBACHER DISEASE = UN CAS SPORADIQUE DE MALADIE PRESUMEE DE PELIZAEUS-MERZBACHERLIANO H; RICOY JR; DIAZ FLORES L et al.1974; EUROP. NEUROL.; SWITZ.; DA. 1974; VOL. 11; NO 5; PP. 304-316; BIBL. 1P.Article

Disrupted SOX10 Regulation of GJC2 Transcription Causes Pelizaeus-Merzbacher-Like DiseaseOSAKA, Hitoshi; HAMANOUE, Haruka; YAMAMOTO, Ryoko et al.Annals of neurology. 2010, Vol 68, Num 2, pp 250-254, issn 0364-5134, 5 p.Article

Pelizaeus-Merzbacher-Like Disease Presentation of MCT8 Mutated Male SubjectsVAURS-BARRIERE, Catherine; DEVILLE, Marlène; TOURAINE, Renaud et al.Annals of neurology. 2009, Vol 65, Num 1, pp 114-118, issn 0364-5134, 5 p.Article

Connatal Pelizaeus-Merzbacher Disease: A Great MasqueraderBERI, Sushil; HUSSAIN, Nahin; GOSALAKKAL, Jayaprakash A et al.Indian journal of pediatrics. 2010, Vol 77, Num 3, issn 0019-5456, p. 338Article

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher diseaseHENNEKE, M; GEGNER, S; HAHN, A et al.Neurology. 2010, Vol 74, Num 22, pp 1785-1789, issn 0028-3878, 5 p.Article

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseHENNEKE, M; COMBES, P; BOESPFLUG-TANGUY, O et al.Neurology. 2008, Vol 70, Num 10, pp 748-754, issn 0028-3878, 7 p.Article

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous MutationFEINSTEIN, Miora; MARKUS, Barak; SIVAN, Sara et al.American journal of human genetics. 2010, Vol 87, Num 6, pp 820-828, issn 0002-9297, 9 p.Article

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus ― Merzbacher diseaseBILIR, B; YAPICI, Z; YALCINKAYA, C et al.Clinical genetics. 2013, Vol 83, Num 1, pp 66-72, issn 0009-9163, 7 p.Article

Pelizaeus―Merzbacher-like disease presenting as complicated hereditary spastic paraplegiaZITTEL, S; NICKEL, M; WOLF, N. I et al.Journal of neurology. 2012, Vol 259, Num 11, pp 2498-2500, issn 0340-5354, 3 p.Article

A Novel GJC2 Mutation Associated with Hypomyelination and Müllerian Agenesis Syndrome: Coincidence or a New Entity?YALCINKAYA, Cengiz; ERTURK, Ozdem; TUYSUZ, Beyhan et al.Neuropediatrics. 2012, Vol 43, Num 3, pp 159-161, issn 0174-304X, 3 p.Article

Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stabilityERMING WANG; DIMOVA, Neviana; SPERLE, Karen et al.Experimental neurology (Print). 2008, Vol 214, Num 2, pp 322-330, issn 0014-4886, 9 p.Article

Magnetic Resonance Imaging of a Unique Mutation in a Family With Pelizaeus―Merzbacher DiseaseMILLER, Elka; WIDJAJA, Elysa; NILSSON, Daniel et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 748-752, issn 1552-4825, 5 p.Article

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplicationsREGIS, S; BIANCHERI, R; BERTINI, E et al.Clinical genetics. 2008, Vol 73, Num 3, pp 279-287, issn 0009-9163, 9 p.Article

Analysis of Human Alternative First Exons and Copy Number Variation of the GJA12 Gene in Patients With Pelizaeus-Merzbacher-Like DiseaseNICO RUF; UHLENBERG, Birgit.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2009, Vol 150, Num 2, pp 226-232, issn 1552-4841, 7 p.Article

Pelizaeus Merzbacher disease: morphological analysis of the vestibulo-cochlear systemSCHMUTZHARD, Joachim; SCHWENTNER, Ilona; GLUECKERT, Rudolf et al.Acta oto-laryngologica. 2009, Vol 129, Num 12, pp 1395-1399, issn 0001-6489, 5 p.Article

Hearing profile and MRI myelination of auditory pathway in Pelizaeus-Merzbacher diseaseKUAN, Chen-Chieh; SANO, Masaki; KAGA, Kimitaka et al.Acta oto-laryngologica. 2008, Vol 128, Num 5, pp 539-546, issn 0001-6489, 8 p.Article

Development of speech and hearing of two children with Pelizaeus-Merzbacher disease presenting only waves I and II of the auditory brainstem responseRIKITAKE, Masahiro; KAGA, Kimitaka.Acta oto-laryngologica. 2012, Vol 132, Num 5, pp 563-569, issn 0001-6489, 7 p.Article

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsORTHMANN-MURPHY, Jennifer L; SALSANO, Ettore; ABRAMS, Charles K et al.Brain. 2009, Vol 132, pp 426-438, issn 0006-8950, 13 p., 2Article

The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytesKOLODZIEJCZYK, Karolina; HAMILTON, Nicola B; WADE, Anna et al.Brain. 2009, Vol 132, pp 1496-1508, issn 0006-8950, 13 p., 6Article

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus―Merzbacher disease in a girlFONSECA, Acs; BONALDI, A; COSTA, S. S et al.Clinical genetics. 2013, Vol 83, Num 2, pp 169-174, issn 0009-9163, 6 p.Article

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22CARVALHO, Cmb; BARTNIK, M; PEHLIVAN, D et al.Clinical genetics. 2012, Vol 81, Num 6, pp 532-541, issn 0009-9163, 10 p.Article

Stoffwechselstörungen mit typischen Veränderungen im MRT : MR-Spektroskopie im ZNS = Metabolic disorders with typical alterations in MRI : MR spectroscopy in the CNSWARMUTH-METZ, M.Der Radiologe (Berlin. Print). 2010, Vol 50, Num 9, pp 775-783, issn 0033-832X, 9 p.Article