相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?
Debopam Samanta et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY (2016)
Brain morphometry in Pontocerebellar Hypoplasia type 2
Kaspar Ekert et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2
Roberta Battini et al.
JOURNAL OF CHILD NEUROLOGY (2014)
A Diagnostic Approach for Cerebral Palsy in the Genomic Era
Ryan W. Lee et al.
NEUROMOLECULAR MEDICINE (2014)
Natural course of pontocerebellar hypoplasia type 2A
Iciar Sanchez-Albisua et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations
Tatjana Bierhals et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Yasmin Namavar et al.
BRAIN (2011)
Molecular and Neuroimaging Findings in Pontocerebellar Hypoplasia Type 2 (PCH2): Is Prenatal Diagnosis Possible?
John M. Graham et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
DYSKINETIC CEREBRAL PALSY: A CLINICAL AND:GENETIC STUDY
N A Fletcher et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Pontocerebellar hypoplasia Clinical, pathologic, and genetic studies
D. Cassandrini et al.
NEUROLOGY (2010)
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)
Peter G. Barth et al.
NEUROMUSCULAR DISORDERS (2008)
Pontocerebellar hypoplasia type 2:: Variability in clinical and imaging findings
Maja Steinlin et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2007)
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
A Rajab et al.
NEUROLOGY (2003)
Pontocerebellar hypoplasia type 2 - Further clinical characterization and evidence of positive response of dyskinesia to levodopa
S Grosso et al.
JOURNAL OF NEUROLOGY (2002)
Genetic factors in athetoid cerebral palsy
DJ Amor et al.
JOURNAL OF CHILD NEUROLOGY (2001)