P. Coutinho

V. Emmel, M. Saraiva-Pereira, P. Coutinho, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

E. Bertini, M. Tosetti, A. Durr, 2006, Neurogenetics.

Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley

P. Coutinho, C. Lemos, I. Alonso, 2014, Cephalalgia : an international journal of headache.

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

P. Coutinho, A. Sousa, I. Alonso, 2013, JAMA neurology.

Improvement in the molecular diagnosis of Machado-Joseph disease.

G. Rouleau, P. Maciel, P. Coutinho, 2001, Archives of neurology.

Pathological crying in patients with Machado‐Joseph disease

P. Bugalho, J. Guimarães, P. Coutinho, 2008, Movement disorders : official journal of the Movement Disorder Society.

Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux.

P. Coutinho, P. Barros, J. Roriz, 2014, Arquivos de neuro-psiquiatria.

Mitochondrial DNA Analysis in Ocular Myopathy

F. Santorelli, M. L. Cardoso, L. Vilarinho, 1998, European Neurology.

Machado-Joseph disease.

P. Coutinho, L. Sudarsky, 1995, Clinical neuroscience.

Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

M. Dubé, G. Rouleau, A. Amorim, 2014, Human Genetics.

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1995, American journal of human genetics.

Increased lipase and amilase levels in critically ill patients: retrospective study.

P. Coutinho, Margarida Ferreira, R. Coelho, 2008, Revista Brasileira de terapia intensiva.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

F. Pasquier, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

Chapter 16 Overview on Hereditary Spastic Paraplegias

P. Coutinho, J. Loureiro, 2007 .

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

G. Stevanin, M. Barbosa, P. Coutinho, 2013, JAMA neurology.

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 .

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

J. Weissenbach, J. Burgunder, J. Prud'homme, 2000, Human molecular genetics.

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.

Living with Machado-Joseph Disease in a Small Rural Community of the Tagus Valley

C. Paúl, Ignácio Martín, P. Coutinho, 2000, Public Health Genomics.

Superficial Siderosis and Anticoagulation Therapy: Different Presentations, Different Outcomes

P. Coutinho, L. Ruano, V. Cruz, 2012, Case reports in neurological medicine.

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

H. Brunner, I. Martins, P. Coutinho, 2012, Genetics in Medicine.

Late-Onset Forms of Familial Amyloid Polyneuropathy (Portuguese Type): A Reappraisal

P. Coutinho, I. Ribeiro, 1988 .

Familial Amyloid Polyneuropathy: A Clinical Scale for the Evaluation of the Peripheral Neuropathy

P. Coutinho, E. Matos, R. Morais, 1988 .

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

T. Paunio, M. de Carvalho, M. Saraiva, 2003, Muscle & nerve.

Periodic Plasma Exchanges in the Treatment of Familial Amyloid Polyneuropathy: Preliminary Results

M. Saraiva, P. Coutinho, P. Costa, 1988 .

Familial Amyloid Polyneuropathy (Portuguese Type): Study of Asymptomatic Carriers

M. Saraiva, P. Coutinho, P. Costa, 1988 .

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado‐joseph disease

Í. Lopes-Cendes, A. Koeppen, S. Kish, 1996, Annals of neurology.

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

G. Rouleau, P. Maciel, J. Guimarães, 1998, American journal of medical genetics.

Single-implant mandibular overdentures: Clinical, radiographic, and patient-reported outcomes after a 5-year follow-up.

P. Coutinho, C. Leles, T. Nogueira, 2021, The Journal of prosthetic dentistry.

A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

P. Coutinho, I. Alonso, J. Sequeiros, 2005, Journal of Human Genetics.

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

P. Coutinho, P. Serrano, C. Pinheiro, 1997, Journal of clinical epidemiology.

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

J. Prud'homme, J. Hazan, C. Paternotte, 1999, Archives of neurology.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

M. Ruberg, D. Hannequin, A. Dürr, 2004, Archives of neurology.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

J. Weissenbach, J. Burgunder, J. Prud'homme, 1996, Brain : a journal of neurology.

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

Manuela M. Santos, M. Constante, P. Maciel, 2006, Journal of Human Genetics.

Recessive Ataxia With Ocular Motor Apraxia

P. Coutinho, Jorge Sequiros, 2017 .

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 .

Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).

M. Lima, P. Coutinho, J. Vasconcelos, 1998, Archives of neurology.

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

P. Coutinho, I. Alonso, J. Barros, 2003, Archives of neurology.

Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.

P. Maciel, J. Guimarães, P. Coutinho, 1994, Genomics.

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3)

Teresa Kay, Manuela Lima, Conceição Bettencourt, 2014, BMC Neurology.

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

P. Coutinho, J. Loureiro, J. Sequeiros, 2019, Human mutation.

NATURAL SELECTION AT THE MJD LOCUS: PHENOTYPIC DIVERSITY, SURVIVAL AND FERTILITY AMONG MACHADO-JOSEPH DISEASE PATIENTS FROM THE AZORES

M. Lima, P. Coutinho, A. Abade, 2001, Journal of Biosocial Science.

NATURAL S ELECTION AT T HE M JD L OCUS: PHENOTYPIC D IVERSITY, S URVIVAL A ND FERTILITY A MONG M ACHADO-JOSEPH DISEASE P ATIENTS F ROM T HE A ZORES

M. Lima, P. Coutinho, A. Abade, 2001 .

Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal

R. Montiel, P. Maciel, P. Coutinho, 2006, Human Heredity.

Diffusion of a dominant gene: biodemographic study of the families affected by Machado-Joseph disease in the Islands of the Azores (Portugal)

P. Coutinho, A. Abade, F. Mayer, 1997 .

Gender equality in Machado–Joseph disease

L. Farrer, A. DeStefano, G. Rouleau, 1995, Nature Genetics.

Prevalence, geographic distribution, and genealogical investigation of Machado-Joseph disease in the Azores (Portugal).

M. Lima, P. Coutinho, A. Abade, 1997, Human Biology: The Official Publication of the American Association of Anthropological Genetics.

Cis‐acting factors promoting the CAG intergenerational instability in Machado–Joseph disease

A. Amorim, P. Giunti, F. Calafell, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[Clinical, genetic and pathological aspects of Machado-Joseph disease].

P. Coutinho, J. Sequeiros, 1981, Journal de genetique humaine.

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

P. Coutinho, J. Sequeiros, A. Seixas, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

R. Margolis, A. Fortuna, P. Coutinho, 2011, Behavioral and Brain Functions.

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21

J. Weissenbach, J. Prud'homme, A. Dürr, 2007, Neurology.

From DNA to the Community

Maria do Rosário Silva, A. Kent, D. Gaudet, 2000, Public Health Genomics.

Evaluation of the effect of sulphametoxazole and trimethoprim in patients with Machado-Joseph disease.

P. Coutinho, M. Correia, J. Guimarães, 1995, Revista de neurología (Ed. impresa).

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin

J. Guimarães, P. Coutinho, J. Sequeiros, 2003, European Journal of Human Genetics.

Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1

P. Svenningsson, P. Coutinho, M. Paucar, 2015, Movement disorders clinical practice.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2014, American journal of human genetics.