C. Barbot

S. Westaway, C. Barbot, A. Guimarães, 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin

A. Amorim, F. Santorelli, M. L. Cardoso, 2005, Human mutation.

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

G. Oliveira, J. Epplen, P. Maciel, 2011, Brain and Development.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

G. Uziel, F. Santorelli, E. Leão, 2008, Molecular genetics and metabolism.

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

S. Pascual-Pascual, C. Barbot, T. Coelho, 2008, Clinical genetics.

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

S. Tsuji, M. Pandolfo, R. Margolis, 2002, Archives of neurology.

Trinucleotide Repeats in 202 Families With Ataxia

J. Vale, J. Sequeiros, S. Tsuji, 2002 .

Ataxia-oculomotor apraxia type 1

P. Coutinho, C. Barbot, 2015 .

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

J. Hardy, R. Guerreiro, J. Bras, 2015, American journal of human genetics.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

N. Drouot, A. Durr, L. Schöls, 2009, Brain : a journal of neurology.

Stereotypies in Rett syndrome

G. Oliveira, P. Maciel, P. Cabral, 2007, Neurology.

Outcome of three cases of untreated maternal glutaric aciduria type I

E. Martins, L. Diogo, P. Garcia, 2008, European Journal of Pediatrics.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Colin A. Johnson, S. Nelson, B. Merriman, 2011, Nature Genetics.

Homozygosity mapping of a third Joubert syndrome locus to 6q23

M. Koenig, M. Gribaa, E. Boltshauser, 2004, Journal of Medical Genetics.

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

B. Cormand, M. Ribasés, A. Ormazabal, 2006, Medicina clinica.

[Neuroimaging features in mucopolysaccharidosis: their correlation with mental retardation].

C. Barbot, J. Teixeira, E. Martins, 2006, Revista de neurologia.

Liver transplantation in a case of argininaemia

M. L. Cardoso, E. Martins, L. Vilarinho, 2001, Journal of Inherited Metabolic Disease.

Prothrombotic study in full term neonates with arterial stroke.

C. Barbot, J. Barbot, I. Carrilho, 2001, Haematologica.

[Sturge-Weber syndrome -clinical and neuroimaging variability].

M. Ríos, C. Barbot, T. Temudo, 2012, Anales de pediatria.

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

G. Oliveira, P. Maciel, P. Cabral, 2008, Movement disorders : official journal of the Movement Disorder Society.

Congenital ataxia due to novel variant in ATP8A2

R. Guerreiro, J. Bras, S. Cavaco, 2021, Clinical genetics.

[Galactosemia: the genotype and phenotype of seven patients].

M. L. Cardoso, E. Martins, C. Barbot, 2004 .

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

P. Coutinho, J. Barros, J. Sequeiros, 2001, Archives of neurology.

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

M. Koenig, N. Tachi, P. Coutinho, 2001, American journal of human genetics.

Recessive Ataxia With Ocular Apraxia

P. Coutinho, J. Sequeiros, C. Barbot, 2001 .

l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients

M. L. Cardoso, L. Diogo, C. Barbot, 1997, Brain and Development.

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

R. Guerreiro, J. Bras, I. Alonso, 2020, Journal of clinical medicine.

[Cerebellar hypoplasias].

C. Barbot, M. M. Safronova, J. Resende Pereira, 2010, Acta medica portuguesa.

Liver transplantation prevents progressive neurological impairment in argininemia.

M. L. Cardoso, E. Martins, L. Vilarinho, 2013, JIMD reports.

Clinical and molecular studies in three Portuguese mtDNA T8993G families.

F. Santorelli, E. Leão, L. Vilarinho, 2000, Pediatric neurology.

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

A. Tessa, F. Santorelli, L. Vilarinho, 2007, Biochemical and biophysical research communications.

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

M. L. Cardoso, E. Martins, E. Rodrigues, 2011, Journal of Inherited Metabolic Disease.

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation

R. Carrozzo, A. Tessa, F. Santorelli, 2001, Journal of Inherited Metabolic Disease.