Results 171 to 180 of about 9,985 (202)

CNTNAP1-Related Congenital Hypomyelinating Neuropathy

Pediatric Neurology, 2019
Congenital hypomyelinating neuropathy is a rare form of hereditary peripheral neuropathy characterized by nonprogressive weakness, areflexia, hypotonia, severely reduced nerve conduction velocities, and hypomyelination. Mutations in contactin-associated protein 1 (CNTNAP1) were recently described as a cause of congenital hypomyelinating neuropathy ...
Harry Lesmana, Marissa Vawter Lee, Seyed Ali Hosseini, T. Andrew Burrow, Barbara Hallinan, Kevin Bove, Mark Schapiro, Robert J. Hopkin   +7 more
openaire   +2 more sources

Central hypomyelination associated with congenital hypomyelinating polyneuropathy: report of an autopsied case.

Clinical neuropathology, 1989
The central nervous system (CNS) findings associated with congenital hypomyelinating polyneuropathy (CHN) are not established due to a paucity of reported post-mortem examinations. In this report we describe the pathologic changes found in the peripheral nervous system and CNS in a 2 1/2-week-old infant with a clinical diagnosis of CHN who died of ...
M D, Johnson, A D, Glick, W O, Whetsell
openaire   +1 more source

Extrapyramidal Movement with Hypomyelination

European Neurology, 2020
Milad, Yazdani, Thomas Kenneth, Koch
openaire   +2 more sources

Rare forms of hypomyelination and delayed myelination

Hypomyelination is defined by the evidence of an unchanged pattern of deficient myelination on two MRIs performed at least 6 months apart in a child older than 1 year. When the temporal criteria are not fulfilled, and the follow-up MRI shows a progression of the myelination even if still not adequate for age, hypomyelination is excluded and the pattern
Eleonora, Mura, Cecilia, Parazzini, Davide, Tonduti   +2 more
openaire   +2 more sources

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

Brain and Development, 2022
Mitsuko Nakashima, Takuya Hiraide, Shinobu Fukumura   +2 more
exaly  

Hypomyelination versus delayed myelination

Annals of Neurology, 2010
van der Knaap, M.S., Wolf, N.I.
openaire   +5 more sources

P305 Are hypomyelination and hypomyelination the same? Clinical variation in children with lack of myelin

European Journal of Paediatric Neurology, 2009
N.I. Wolf, M.A.A.P. Willemsen, D. Rating, E. Boltshauser, M.E. Steenweg, M.S. van der Knaap   +5 more
openaire   +1 more source

Hypomyelinating disorders

2011
Jeremy Jones, Richard Gagen, Frank Gaillard   +2 more
openaire   +1 more source

Hypomyelinating leukoencephalopathies

European Journal of Paediatric Neurology, 2008
openaire   +1 more source

Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association

Journal of Child Neurology, 2015
Mathew Alexander, Sangeetha Yoganathan, Maya Mary Thomas   +2 more
exaly