Ataxia telangiectasia-like disorder: A child with a novel variant in MRE11A gene - Aquino, J.; Ribeiro, V.; Alonso, I.; Ramos, F.; Vasconcelos, M. (Revista de Neurologia, 2017)

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset - Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A. (Annals of Clinical and Translational Neurology, 2017)

Genetic contributors to intergenerational CAG repeat instability in Huntington’s disease knock-in mice - Neto, J.L.; Lee, J.-M.; Afridi, A.; Gillis, T.; Guide, J.R.; Dempsey, S.; Lager, B.; Alonso, I.; Wheeler, V.C.; Pinto, R.M. (Genetics, 2017)

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias - Morais, S.; Raymond, L.; Mairey, M.; Coutinho, P.; Brandão, E.; Ribeiro, P.; Loureiro, J.L.; Sequeiros, J.; Brice, A.; Alonso, I.; Stevanin, G. (European Journal of Human Genetics, 2017)

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features - Sousa, A.L.; Alonso, I.; Magalhães, M. (Neurological Sciences, 2017)

Rare neurodegenerative diseases: Clinical and genetic update - Matilla-Duenas, A.; Corral-Juan, M.; Rodríguez-Palmero Seuma, A.; Vilas, D.; Ispierto, L.; Morais, S.; Sequeiros, J.; Alonso, I.; Volpini, V.; Serrano-Munuera, C.; Pintos-Morell, G.; Alvarez, R.; et al. (Advances in Experimental Medicine and Biology, 2017)

A recessive ataxia diagnosis algorithm for the next generation sequencing era - Renaud, M.; Tranchant, C.; Martin, J.V.T.; Mochel, F.; Synofzik, M.; van de Warrenburg, B.; Pandolfo, M.; Koenig, M.; Kolb, S.A.; Anheim, M.; Alonso, I.; Azzedine, H.; et al. (Annals of Neurology, 2017)

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil - Gheno, T.C.; Furtado, G.V.; Saute, J.A.M.; Donis, K.C.; Fontanari, A.M.V.; Emmel, V.E.; Pedroso, J.L.; Barsottini, O.; Godeiro-Junior, C.; van der Linden, H.; Ternes Pereira, E.; Cintra, V.P.; et al. (European Journal of Neurology, 2017)

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal - Alves-Ferreira, M.; Coelho, T.; Santos, D.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C. (Molecular Neurobiology, 2017)

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology - Taipa, R.; Pereira, C.; Reis, I.; Alonso, I.; Bastos-Lima, A.; Melo-Pires, M.; Magalhães, M. (Brain, 2016)

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Porto, G.; Brissot, P.; Swinkels, D.W.; Zoller, H.; Kamarainen, O.; Patton, S.; Alonso, I.; Morris, M.; Keeney, S. (European Journal of Human Genetics, 2016)

Large-scale functional RNAi Screen in C. elegans identifies TGF-β and notch signaling pathways as modifiers of CACNAIA - da Conceição Pereira, M.; Morais, S.; Sequeiros, J.; Alonso, I. (ASN Neuro, 2016)

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) - Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A. (European Journal of Human Genetics, 2016)

Chromosome substitution strain assessment of a Huntington’s disease modifier locus - Ramos, E.M.; Kovalenko, M.; Guide, J.R.; St. Claire, J.; Gillis, T.; Mysore, J. S.; Sequeiros, J.; Wheeler, V.C.; Alonso, I.; MacDonald, M. E. (Mammalian Genome, 2015)

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Porto, G.; Brissot, P.; Swinkels, D.W.; Zoller, H.; Kamarainen, O.; Patton, S.; Alonso, I.; Morris, M.; Keeney, S. (European Journal of Human Genetics, 2015)

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease - Ramos, E.M.; Gillis, T.; Mysore, J. S.; Lee, J. -M.; Gögele, M.; D'Elia, Y.; Pichler, I.; Sequeiros, J.; Pramstaller, P.P.; Gusella, J. F.; MacDonald, M. E.; Alonso, I. (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 2015)

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4 - Bras, J.; Alonso, I.; Barbot, C.; Costa, M.M.; Darwent, L.; Orme, T.; Sequeiros, J.; Hardy, J.; Coutinho, P.; Guerreiro, R. (American Journal of Human Genetics, 2015)

Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism - Moreira, I.; Bastos-Ferreira, R.; Silva, J.; Ribeiro, C.; Alonso, I.; Chaves, J. (Seizure, 2015)

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) - Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A. (European Journal of Human Genetics, 2015)

Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey - Loureiro, J.L.; Brandão, E.; Ruano, L.; Brandão, A.F.; Lopes, A. M.; Thieleke-Matos, C.; Miller-Fleming, L.; Cruz, V.T.; Barbosa, M.; Silveira, I.; Stevanin, G.; Pinto-Basto, J.; et al. (JAMA Neurology, 2013)

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset - Ramos, E.M.; Latourelle, J.C.; Gillis, T.; Mysore, J. S.; Squitieri, F.; Di Pardo, A.; Di Donato, S.; Gellera, C.; Hayden, M. R.; Morrison, P. J.; Nance, M.; Ross, C.A.; et al. (Neurogenetics, 2013)

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family - Barros, J.; Damásio, J.; Tuna, A.; Alves, I.; Silveira, I.; Pereira-Monteiro, J.; Sequeiros, J.; Alonso, I.; Sousa, A.; Coutinho, P. (JAMA Neurology, 2013)

Huntington disease and Huntington disease-like in a case series from Brazil - Castilhos, R.; Souza, A.; Furtado, G.; Gheno, T.; Silva, A.; Vargas, F.; Lima, M.-A.; Barsottini, O.; Pedroso, J.; Godeiro, C.; Salarini, D.; Pereira, E.; et al. (Clinical Genetics, 2013)

Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility - Quintas, M.; Neto, J.L.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Sousa, A.; Alonso, I.; Lemos, C. (PLoS ONE, 2013)

The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal - Barros, J.; Ruano, L.; Domingos, J.; Tuna, A.; Damásio, J.; Alonso, I.; Silveira, I.; Sequeiros, J.; Coutinho, P. (Headache, 2013)

Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations - Conceiço Pereira, M.; Loureiro, J.L.; Pinto-Basto, J.; Brando, E.; Margarida Lopes, A.; Neves, G.; Dias, P.; Geraldes, R.; Martins, I.P.; Cruz, V.T.; Kamsteeg, E.-J.; Brunner, H.G.; et al. (Genetics in Medicine, 2012)

Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions - Ramos, E.M.; Cerqueira, J.; Lemos, C.; Pinto-Basto, J.; Alonso, I.; Sequeiros, J. (Movement Disorders, 2012)

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients - Ramos, E.M.; Keagle, P.; Gillis, T.; Lowe, P.; Mysore, J. S.; Leclerc, A. L.; Ratti, A.; Ticozzi, N.; Gellera, C.; Gusella, J. F.; Silani, V.; Alonso, I.; et al. (Amyotrophic Lateral Sclerosis, 2012)

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? - Emmel, V.E.; Alonso, I.; Jardim, L.B.; Saraiva-Pereira, M.L.; Sequeiros, J. (Clinical Genetics, 2011)

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes - Seixas, A.I.; Vale, J.; Jorge, P.; Marques, I.; Santos, R.; Alonso, I.; Fortuna, A.M.; Pinto-Basto, J.; Coutinho, P.; Margolis, R.L.; Sequeiros, J.; Silveira, I. (Behavioral and Brain Functions, 2011)

A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients - Lemos, C.; Neto, J.L.; Pereira-Monteiro, J.; Mendonça, D.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A. (European Journal of Neurology, 2011)

Ataxia and progressive encephalopathy in a 4-year-old girl - Spears, M.D.; Melton, S.; Mao, Q.; Payne, D.; Rakheja, D.; Hatanpaa, K.J.; Burns, D.K.; Sequeiros, J.; Alonso, I. (Laboratory Medicine, 2010)

BDNF and CGRP interaction: Implications in migraine susceptibility - Lemos, C.; Mendonça, D.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A. (Cephalalgia, 2010)

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2) - Ramos, E.M.; Martins, S.; Alonso, I.; Emmel, V.E.; Saraiva-Pereira, M.L.; Jardim, L.B.; Coutinho, P.; Sequeiros, J.; Silveira, I. (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 2010)

Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study - Lemos, C.; Pereira-Monteiro, J.; Mendonça, D.; Ramos, E.M.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A. (Archives of Neurology, 2010)

Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population - Sequeiros, J.; Ramos, E.M.; Cerqueira, J.; Costa, M.C.; Sousa, A.; Pinto-Basto, J.; Alonso, I. (Clinical Genetics, 2010)

Sensory neuronopathy in ataxia with oculomotor apraxia type 2 - Gazulla, J.; Benavente, I.; López-Fraile, I.P.; Tordesillas, C.; Modrego, P.; Alonso, I.; Pinto-Basto, J. (Journal of the Neurological Sciences, 2010)

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) - Almeida, T.; Alonso, I.; Martins, S.; Ramos, E.M.; Azevedo, L.; Ohno, K.; Amorim, A.; Saraiva-Pereira, M.L.; Jardim, L.B.; Matsuura, T.; Sequeiros, J.; Silveira, I. (PLoS ONE, 2009)

The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment - Marques, J.M.; Alonso, I.; Santos, C.; Silveira, I.; Olsson, I.A.S. (Comparative Medicine, 2009)

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant - Alonso, I.; Marques, J.M.; Sousa, N.; Sequeiros, J.; Olsson, I.A.S.; Silveira, I. (Neurobiology of Aging, 2008)

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10 - Alonso, I.; Jardim, L.B.; Artigalas, O.; Saraiva-Pereira, M.L.; Matsuura, T.; Ashizawa, T.; Sequeiros, J.; Silveira, I. (Neurology, 2006)

Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3] - Trott, A.; Jardim, L.B.; Ludwig, H.T.; Saute, J.A.M.; Artigalás, O.; Kieling, C.; Wanderley, H.Y.C.; Rieder, C.R.M.; Monte, T.L.; Socal, M.; Alonso, I.; Ferro, A.; et al. (Clinical Genetics, 2006)

A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14 - Alonso, I.; Costa, C.; Gomes, A.; Ferro, A.; Seixas, A.I.; Silva, S.; Cruz, V.T.; Coutinho, P.; Sequeiros, J.; Silveira, I. (Journal of Human Genetics, 2005)

A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6] - Alonso, I.; Barros, J.; Tuna, A.; Seixas, A.; Coutinho, P.; Sequeiros, J.; Silveira, I. (Clinical Genetics, 2004)