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Items: 16

1.

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F.

Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb. No abstract available.

2.

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F.

Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172.

3.

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.

Paiva ARB, Melo US, Freua F, Dória D, Cabral KSS, Macedo-Souza LI, Lucato LT, Kok F.

Arq Neuropsiquiatr. 2018 Apr;76(4):283. doi: 10.1590/0004-282x20180024. No abstract available.

4.

Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient.

Coatti GC, Frangini M, Valadares MC, Gomes JP, Lima NO, Cavaçana N, Assoni AF, Pelatti MV, Birbrair A, de Lima ACP, Singer JM, Rocha FMM, Da Silva GL, Mantovani MS, Macedo-Souza LI, Ferrari MFR, Zatz M.

Stem Cell Rev. 2017 Oct;13(5):686-698. doi: 10.1007/s12015-017-9752-2.

PMID:
28710685
5.

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H.

Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045.

6.

Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes.

Kimura L, Nunes K, Macedo-Souza LI, Rocha J, Meyer D, Mingroni-Netto RC.

Am J Hum Biol. 2017 Mar;29(2). doi: 10.1002/ajhb.22930. Epub 2016 Oct 20.

PMID:
27761960
7.

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F.

Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec.

8.

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.

de Paiva AR, Freua F, Lucato LT, Parmera J, Dória D, Nóbrega PR, Olávio TR, Macedo-Souza LI, Kok F.

J Neurol. 2016 Apr;263(4):821-2. doi: 10.1007/s00415-016-8065-8. Epub 2016 Feb 25. No abstract available.

PMID:
26914930
9.

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S.

Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18.

10.

Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD).

Freua F, Parmera JB, Doria Dde O, Paiva AR, Macedo-Souza LI, Kok F.

Arq Neuropsiquiatr. 2015 Jan;73(1):65. doi: 10.1590/0004-282X20140183. Epub 2015 Jan 1. No abstract available.

11.

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

Amorim S, Heise CO, Santos S, Macedo-Souza LI, Zatz M, Kok F.

Muscle Nerve. 2014 Jan;49(1):131-3. doi: 10.1002/mus.24087. Epub 2013 Oct 25.

PMID:
24123118
12.

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).

Graciani Z, Santos S, Macedo-Souza LI, Monteiro CB, Veras MI, Amorim S, Zatz M, Kok F.

Arq Neuropsiquiatr. 2010 Feb;68(1):3-6.

13.

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M.

Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4.

14.

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Nascimento RM, Bueno C, Martyn M, Leão EK, Zatz M.

Neurogenetics. 2008 Jul;9(3):225-6. doi: 10.1007/s10048-008-0130-8. Epub 2008 May 8. No abstract available.

PMID:
18463901
15.

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.

Schmidt WM, Kraus C, Höger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Müller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE.

EMBO Rep. 2007 Jul;8(7):691-7. Epub 2007 Jun 15.

16.

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M.

Ann Neurol. 2005 May;57(5):730-7.

PMID:
15852396

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