Search details
1.
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Ann Neurol
; 90(2): 319-323, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34180078
2.
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Hum Mol Genet
; 24(24): 7111-20, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26427606
3.
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
Mov Disord
; 32(2): 287-291, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27753167
4.
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
Hum Mutat
; 37(11): 1180-1189, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27449489
5.
CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.
Brain
; 143(2): 386-390, 2020 02 01.
Article
in English
| MEDLINE | ID: mdl-32040556
6.
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
J Hum Genet
; 60(10): 637-40, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26134514
7.
Mutations in γ adducin are associated with inherited cerebral palsy.
Ann Neurol
; 74(6): 805-14, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23836506
8.
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
Muscle Nerve
; 50(3): 448-53, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24715573
9.
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
Hum Mutat
; 34(9): 1200-7, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23804563
10.
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Hum Mutat
; 34(2): 296-300, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23086778
11.
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
Hum Mol Genet
; 20(2): 345-53, 2011 Jan 15.
Article
in English
| MEDLINE | ID: mdl-21044948
12.
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
Hum Genet
; 132(3): 275-83, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23138527
13.
Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.
Mov Disord
; 33(12): 1968-1970, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30452786
14.
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
Hum Mutat
; 33(8): 1182-7, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22539340
15.
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Hum Genet
; 131(3): 435-42, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-21912879
16.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Mov Disord
; 27(3): 393-9, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22173904
17.
Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.
PLoS Genet
; 5(3): e1000415, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19282984
18.
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
Hum Mol Genet
; 18(20): 3969-77, 2009 Oct 15.
Article
in English
| MEDLINE | ID: mdl-19656777
19.
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Ann Neurol
; 68(5): 611-8, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20853438
20.
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Hum Mutat
; 31(4): E1251-60, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20104589