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kw.\*:("Pelizaeus-Merzbacher disease")

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DIE MAUS-MUTANTE "JIMPY". TIERMODELL EINER LEUKODYSTROPHIE. = LA SOURIS MUTANTE "JIMPY", UN MODELE ANIMAL D'UNE LEUCODYSTROPHIEMEIER C.1977; FORTSCHR. D. MED.; DTSCH.; DA. 1977; VOL. 95; NO 43; PP. 2623-2626; ABS. ANGL.; BIBL. 18 REF.Article

Mild pelizaeus-merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNAHÜBNER, C. A; SENNING, A; ORTH, U et al.Neuroscience. 2005, Vol 132, Num 3, pp 697-701, issn 0306-4522, 5 p.Article

MICROCEPHALY WITH PECULIAR DEMYELINATION MIMICKING PELIZAEUS-MERZBACHER DISEASE.KAMOSHITA S; IGARASHI M; KOHNO R et al.1977; ACTA NEUROPATOL.; ALLEM.; DA. 1977; VOL. 40; NO 1; PP. 95-98; BIBL. 10 REF.Article

CONNATAL PELIZAEUS-MERZBACHER DISEASE WITH CONGENITAL STRIDOR IN TWO MATERNAL COUSINSRENIER WO; GABREELS FJM; HUSTINX TWJ et al.1981; ACTA NEUROPATHOL.; ISSN 0001-6322; DEU; DA. 1981; VOL. 54; NO 1; PP. 11-17; BIBL. 33 REF.Article

PELIZAEUS-MERZBACHER DISEASE: BRAIN LIPID AND FATTY ACID COMPOSITIONBOURRE JM; BORNHOFEN JH; ARAOZ CA et al.1978; J. NEUROCHEM.; GBR; DA. 1978; VOL. 30; NO 4; PP. 719-727; BIBL. 56 REF.Article

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2INOUE, Ken.Neurogenetics (Oxford. Print). 2005, Vol 6, Num 1, pp 1-16, issn 1364-6745, 16 p.Article

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher diseaseWOLF, Nicole I; SISTERMANS, Erik A; CHONG, Wui K et al.Brain. 2005, Vol 128, pp 743-751, issn 0006-8950, 9 p., 4Article

NOVEL NEURONAL PROTEOLIPID PROTEIN ISOFORMS ENCODED BY THE HUMAN MYELIN PROTEOLIPID PROTEIN 1 GENESARRET, C; COMBES, P; MICHEAU, P et al.Neuroscience. 2010, Vol 166, Num 2, pp 522-538, issn 0306-4522, 17 p.Article

Magnetic resonance imaging in Pelizaeus-Merzbacher diseaseJOURNEL, H; ROUSSEY, M; GANDON, Y et al.Neuroradiology (Berlin. Print). 1987, Vol 29, Num 4, pp 403-405, issn 0028-3940Article

Pelizaeus-Merzbacher disease in a brother and sisterPAMPHLETT, R; SILBERSTEIN, P.Acta neuropathologica. 1986, Vol 69, Num 3-4, pp 343-346, issn 0001-6322Article

ELECTROPHYSIOLOGIC OBSERVATIONS IN THE CLASSICAL FORM OF PELIZAEUS-MERZBACHER DISEASE.WILKUS RJ; FARRELL DF.1976; NEUROLOGY; U.S.A.; DA. 1976; VOL. 26; NO 11; PP. 1042-1045; BIBL. 15 REF.Article

COMPUTED TOMOGRAPHY IN PELIZAEUS-MERZBACHER DISEASESTATZ A; BOLTSHAUSER E; SCHINZEL A et al.1981; NEURORADIOLOGY; ISSN 0028-3940; DEU; DA. 1981; VOL. 22; NO 2; PP. 103-105; BIBL. 11 REF.Article

CEREBELLAR ATAXIA. CLINICAL AND CT FINDINGS IN TWO CASES OF RARE ETIOLOGYZEUMER H; KOTLAREK F; BLANKENNAGEL A et al.1980; J. NEUROL.; DEU; DA. 1980; VOL. 224; NO 1; PP. 47-51; ABS. GER; BIBL. 14 REF.Article

Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher diseaseKOEPPEN, A. H; RONCA, N. A; GREENFIELD, E. A et al.Annals of neurology. 1987, Vol 21, Num 2, pp 159-170, issn 0364-5134Article

LES MALADIES DEMYELINISANTES HEREDITAIRES (LEUCODYSTROPHIES)FRANCOIS J.1979; J. GENET. HUM.; CHE; DA. 1979; VOL. 27; NO 2; PP. 123-130; ABS. ENG; BIBL. 44 REF.Article

PELIZAEUS-MERZBACHER DISEASE: BIOCHEMICAL ANALYSIS OF ISOLATED MYELIN (ELECTRON-MICROSCOPY; PROTEIN, LIPID AND UNSUBSTITUTED FATTY ACIDS ANALYSIS)BOURRE JM; JACQUE C; NGUYEN LEGROS J et al.1978; EUROP. NEUROL.; CHE; DA. 1978; VOL. 17; NO 6; PP. 317-326; BIBL. 2 P.Article

CONGENITAL RETARDED MYELINIZATION IN A NEW-BORN CHILD WITH INFANTILE SPASMS.DE WEERDT CJ; HOOGHWINKEL GJM.1976; CLIN. NEUROL. NEUROSURG.; NETHERL.; DA. 1976; VOL. 79; NO 2; PP. 143-150; BIBL. 13 REF.Article

Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher diseaseWOODWARD, Karen; CUNDALL, Maria; PALMER, Rodger et al.American journal of medical genetics. 2003, Vol 118A, Num 1, pp 15-24, issn 0148-7299, 10 p.Article

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like diseaseSALVIATI, Leonardo; TREVISSON, Eva; BALDOIN, Maria Cristina et al.Neurogenetics (Oxford. Print). 2007, Vol 8, Num 1, pp 57-60, issn 1364-6745, 4 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

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelinationWOLF, Nicole I; CUNDALL, Maria; WOODWARD, Karen J et al.Neurogenetics (Oxford. Print). 2007, Vol 8, Num 1, pp 39-44, issn 1364-6745, 6 p.Article

Three young adult patients with Pelizaeus-Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perceptionKAGA, Kimitaka; TAMAI, Fumi; KODAMA, Mariko et al.Acta oto-laryngologica. 2005, Vol 125, Num 9, pp 1018-1023, issn 0001-6489, 6 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

Pelizaeus-Merzbacher disease : a point mutation in exon 6 of the proteolipid protein (PLP) genePRATT, V. M; DLOUHY, S. R; HODES, M. E et al.Clinical genetics. 1995, Vol 47, Num 2, pp 99-100, issn 0009-9163Article

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