case report | Q2782326 |
scholarly article | Q13442814 |
P50 | author | Kimia Najafi | Q89942304 |
P2093 | author name string | Ariana Kariminejad | |
Masood Bazrgar | |||
Roxana Kariminejad | |||
Kaveh Hosseini | |||
Azadeh Moshtagh | |||
Neda Sadatian | |||
Gole Maryam Abbassi | |||
Mohamad Hassan Kariminejad | |||
P2860 | cites work | Individual exons encode the integral membrane domains of human myelin proteolipid protein | Q24627399 |
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13) | Q24643599 | ||
A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 | Q28300725 | ||
X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients | Q30632541 | ||
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain | Q34389940 | ||
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease | Q35204565 | ||
A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR | Q35882905 | ||
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females | Q37203101 | ||
Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins | Q41634403 | ||
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients | Q48593828 | ||
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. | Q50530035 | ||
Phenotypic variation in leukoencephalopathy with vanishing white matter | Q77114396 | ||
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement | Q77402205 | ||
Pelizaeus-Merzbacher disease | Q78259690 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P304 | page(s) | 2706098 | |
P577 | publication date | 2017-01-04 | |
P1433 | published in | Case reports in genetics | Q26842219 |
P1476 | title | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis | |
P478 | volume | 2017 |
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