Search details
1.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32472658
2.
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Brain
; 138(Pt 7): 1817-32, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25981959
3.
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
Brain
; 136(Pt 5): 1578-91, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23599387
4.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Neuropediatrics
; 45(3): 175-82, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24407470
5.
Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.
Dev Med Child Neurol
; 52(12): 1160-3, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20964669
6.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27571260
7.
What is the effectiveness and safety of different interventions in the management of drooling in children with cerebral palsy?
Arch Dis Child
; 105(9): 906-910, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32606035
8.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 49(2): 317, 2017 01 31.
Article
in English
| MEDLINE | ID: mdl-28138155
9.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Nat Genet
; 44(3): 338-42, 2012 Jan 22.
Article
in English
| MEDLINE | ID: mdl-22267198
10.
Botulinum toxin in the management of cerebral palsy.
Dev Med Child Neurol
; 46(7): 491-9, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15230464
Results
1 -
10
de 10
1
Next >
>>