نتایج جستجو برای: merzbacher

تعداد نتایج: 317  

Journal: :Journal of Pediatric Neurosciences 2010

Journal: :Case Reports in Clinical Practice 2020

2017
Markus Schmid Sarah Merzbacher Nicola Brzoska Kerstin Müller Marius Jesdinszki

Citation: Schmid M, Merzbacher S, Brzoska N, Müller K and Jesdinszki M (2017) Improvement of Food PackagingRelated Properties of Whey Protein Isolate-Based Nanocomposite Films and Coatings by Addition of Montmorillonite Nanoplatelets. Front. Mater. 4:35. doi: 10.3389/fmats.2017.00035 improvement of Food Packagingrelated Properties of Whey Protein isolate-Based nanocomposite Films and coatings b...

Journal: :Cell 2007
Dana Branzei Marco Foiani

Genome rearrangements are a hallmark of human genomic disorders and occur largely through recombination mechanisms. In this issue, Lee et al. (2007) show that the complex nonrecurrent rearrangements observed in the dysmyelinating disorder Pelizaeus-Merzbacher disease (PMD) are likely to be caused by a replication mechanism involving template switching.

Journal: :Developmental Medicine & Child Neurology 2016

Journal: :Brain : a journal of neurology 2015
Alexander Lossos Nimrod Elazar Israela Lerer Ora Schueler-Furman Yakov Fellig Benjamin Glick Bat-El Zimmerman Haim Azulay Shlomo Dotan Sharon Goldberg John M Gomori Penina Ponger J P Newman Hodaifah Marreed Andreas J Steck Nicole Schaeren-Wiemers Nofar Mor Michal Harel Tamar Geiger Yael Eshed-Eisenbach Vardiella Meiner Elior Peles

Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. It presents in infancy with nystagmus, jerky head movements, hypotonia and developmental delay evolving into spastic tetraplegia with optic atrophy and variable movement disorders. A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Mer...

Journal: :Journal of the neurological sciences 1997
W I Verhagen P L Huygen H J Smeets W O Renier I de Wijs

Journal: :Journal of Neuropathology and Experimental Neurology 1973

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