Author Search Results

1

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

by Barbot, C.

Published 2001

Access document

Article

2

Vómitos Cíclicos / Acidúria Glutárica tipo II - Caso Clínico

by Sarmento, A.

Published 2005

Other Authors: “...Barbot, C....”
Access document

Article

3

Genes, crianças e pediatras: defeito congénito da N-glicosilação tipo Ia

by Nascimento, P.

Published 2009

Other Authors: “...Barbot, C....”
Access document

Article

4

Liver transplantation prevents progressive neurological impairment in argininemia

by Silva, E.S.

Published 2013

Other Authors: “...Barbot, C....”
Access document

Article

5

Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

by Santos-Silva, E.

Published 2013

Other Authors: “...Barbot, C....”
Access document

Article

6

Clinical and Molecular Findings in Four New Patients Harbouring the mtDNA 8993T C Mutation

by Vilarinho, L

Published 2001

Other Authors: “...Barbot, C...”
Access document

Article

7

Síndroma Smith-Lemli-Opitz. Defeito Metabólico na Biossíntese do Colesterol. A Propósito de Três Casos Clínicos

by R. Mota, Céu

Published 2014

Other Authors: “...Barbot, C....”
Access document

Article

8

Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular basis and expanded clinical phenotype

by Santos, M

Published 2020

Other Authors: “...Barbot, C...”
Access document

Article

9

Galactosemia: the genotype and phenotype of seven patients

by MARTINS, E.

Published 2004

Other Authors: “...BARBOT, C....”
Access document

Article

10

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

by Moreira, M.

Published 2001

Other Authors: “...Barbot, C....”
Access document

Article

11

Homozygosity mapping of a third Joubert syndrome locus to 6q23.

by Lagier-Tourenne, C.

Published 2004

Other Authors: “...Barbot, C....”
Access document

Article

12

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

by Moreira, M.C.

Published 2001

Other Authors: “...Barbot, C....”
Access document

Article

13

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

by PEREIRA, C.

Published 2007

Other Authors: “...BARBOT, C....”
Access document

Article

14

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

by Silveira, I.

Published 2000

Other Authors: “...Barbot, C....”
Access document

Article

15

LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patients

by Oliveira, J

Published 2008

Other Authors: “...Barbot, C...”
Access document

Article

16

Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes

by Temudo, T

Published 2011

Other Authors: “...Barbot, C...”
Access document

Article

17

Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

by ORMAZABAL, A.

Published 2006

Other Authors: “...BARBOT, C....”
Access document

Article

18

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

by Moreira, M.C.

Published 2004

Other Authors: “...Barbot, C....”
Access document

Article