Detalhe da pesquisa
1.
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Am J Hum Genet
; 98(6): 1249-1255, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236917
2.
Towards a functional pathology of hereditary neuropathies.
Acta Neuropathol
; 133(4): 493-515, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896434
3.
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.
Brain
; 138(Pt 4): 875-90, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678561
4.
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nat Genet
; 39(3): 366-72, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17322883
5.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Hum Mol Genet
; 22(20): 4224-32, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777631
6.
Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Brain
; 138(Pt 11): e394, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088963
7.
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease.
Neuromuscul Disord
; 31(8): 756-764, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244018
8.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Hum Mutat
; 30(3): E500-19, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19105190
9.
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain
; 131(Pt 3): 772-84, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079167
10.
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Brain
; 130(Pt 4): 1062-75, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17347251
11.
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
Brain
; 129(Pt 6): 1456-62, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16434418
12.
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Mov Disord
; 26(9): 1777-9, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21442655
13.
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Brain Behav
; 6(4): e00451, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27088055
14.
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Arch Neurol
; 60(4): 598-604, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707075
15.
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
Br J Ophthalmol
; 98(7): 889-93, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24522175
16.
C19orf12 mutation leads to a pallido-pyramidal syndrome.
Gene
; 537(2): 352-6, 2014 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24361204
17.
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
PLoS One
; 8(10): e76831, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24130795
18.
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Eur J Hum Genet
; 20(6): 645-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258533
19.
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Hum Genet
; 121(3-4): 413-20, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17273843
20.
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
Am J Med Genet B Neuropsychiatr Genet
; 144B(7): 854-61, 2007 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17503452