| 1 |
The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates de novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation.
61
|
Hattori K...Yamauchi J
|
33535532 |
2021 |
| 2 |
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.
61
|
Marchionni E...Mochel F
|
31413903 |
2019 |
| 3 |
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.
61
|
Vasilescu C...Carroll CJ
|
28000699 |
2017 |
| 4 |
[Clinical features and diagnosis of Pelizaeus-Merzbacher disease: five case reports].
61
|
Espinosa E...Cote-Orozco JE
|
27113066 |
2016 |
| 5 |
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
61
|
Shimojima K...Yamamoto T
|
24974158 |
2015 |
| 6 |
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
61
|
Miyatake S...Saitsu H
|
24850488 |
2014 |
| 7 |
New mutation of pelizaeus--merzbacher-like disease; a report from iran.
61
|
Karimzadeh P...Khatami A
|
25035705 |
2014 |
| 8 |
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.
61
|
Tonduti D...Orcesi S
|
23349001 |
2013 |
| 9 |
Hypomyelinating leukoencephalopathy.
61
|
Syed RA
|
23573409 |
2013 |
| 10 |
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.
61
|
Steenweg ME...van der Knaap MS
|
22232354 |
2012 |
| 11 |
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
61
|
Saitsu H...Matsumoto N
|
22036171 |
2011 |
| 12 |
Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH.
61
|
Wolff A...Luder HU
|
21070704 |
2010 |
| 13 |
New case of 4H syndrome and a review of the literature.
61
|
Orcesi S...Balottin U
|
20399393 |
2010 |
| 14 |
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
61
|
Orthmann-Murphy JL...Pareyson D
|
19056803 |
2009 |
| 15 |
Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development.
61
|
Blumkin L...Lerman-Sagie T
|
17149740 |
2007 |
| 16 |
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
61
|
Bugiani M...Zeviani M
|
16707726 |
2006 |
| 17 |
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.
61
|
Di Rocco M...Biancheri R
|
16138252 |
2005 |
