101
TITLE: WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations  Full Text
AUTHORS: Katrin Friedrich; Lin Lee; Dru F Leistritz; Gudrun Nuernberg; Bidisha Saha; Fuki M Hisama; Daniel K Eyman; Davor Lessel; Peter Nuernberg; Chumei M Li; Maria J Garcia F Villalta; Carolien M Kets; Joerg Schmidtke; Vitor Tedim Cruz ; Peter C Van den Akker; Joseph Boak; Dincy Peter; Goli Compoginis; Kivanc Cefle; Sukru Ozturk; Norberto Lopez; Theda Wessel; Martin Poot; Ippel, PF; Birgit Groff Kellermann; Holger Hoehn; George M Martin; Christian Kubisch; Junko Oshima; ...More
PUBLISHED: 2010, SOURCE: HUMAN GENETICS, VOLUME: 128, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 75
102
TITLE: Autosomal recessive spastic ataxias - Clinical review of 19 Portuguese families  Full Text
AUTHORS: Oliveira, A; Cruz, V ; Loureiro, J; Ribeiro, P; Coutinho, P;
PUBLISHED: 2009, SOURCE: 19th Meeting of the European-Neurological-Society in JOURNAL OF NEUROLOGY, VOLUME: 256
INDEXED IN: WOS
103
TITLE: Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families  Full Text
AUTHORS: Loureiro, JL ; Miller Fleming, L; Thieleke Matos, C; Magalhaes, P; Cruz, VT ; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2009, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 119, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 14
104
TITLE: PORTYSTROKE: Screening Genetic Conditions in Portuguese Young Stroke Patients
AUTHORS: Miguel Viana Baptista; Susana Ferreira; Teresa Pinho e Melo; Marta Carvalho; Vitor Tedim Cruz ; Catia Carmona; Fernando Silva; Assuncao Tuna; Miguel Rodrigues; Carla Ferreira; Ana Amelia N Nogueira Pinto; Andre Leitao; Joao Paulo Gabriel; Sofia Calado; Oliveira, JP ; Ferro, JM;
PUBLISHED: 2009, SOURCE: 9th Annual European Round Table Meeting on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 31
INDEXED IN: WOS
105
TITLE: PORTYSTROKE: Screening genetic conditions in portuguese young stroke patients  Full Text
AUTHORS: Miguel Viana-Baptista; Susana Ferreira; Teresa Pinho-e-Melo; Marta Carvalho; Vítor Tedim Cruz ; Cátia Carmona; Fernando Silva; Assunção Tuna; Miguel Rodrigues; Carla Ferreira; Ana Amélia Nogueira Pinto; André Leitão; Joao Paulo Gabriel; Sofia Calado; Oliveira, JP ; J.M Ferro;
PUBLISHED: 2009, SOURCE: Clinical Therapeutics, VOLUME: 31
INDEXED IN: CrossRef
106
TITLE: Autosomal recessive spastic ataxias: clinical review of 19 Portuguese families  Full Text
AUTHORS: Oliveira, AC; Loureiro, JL; Cruz, VT ; Tuna, A; Ribeiro, P; Coutinho, P;
PUBLISHED: 2008, SOURCE: 12th Congress of the European-Federation-of-Neurological-Societies in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 15
INDEXED IN: WOS
107
TITLE: Huntington's disease and Huntington-like phenotype: 10 years of local molecular diagnostic experience
AUTHORS: Santos, C; Cerqueira, J; Magalhaes, P; Costa, MC; Jardim, L; Costa, C; Cruz, V ; Coutinho, P; Maciel, P; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 79
INDEXED IN: WOS
108
TITLE: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration  Full Text
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz ; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; Jose Vale; Paula Coutinho ; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 180
109
TITLE: PORTYSTROKE: SCREENING GENETIC CONDITIONS IN PORTUGUESE YOUNG STROKE PATIENTS
AUTHORS: Viana Baptista, M; Ferreira, S; Melo, TP; Carvalho, M; Cruz, VT ; Carmona, C; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, AN; Silva, FA; Leitao, A; Gabriel, JP; Calado, S; Oliveira, JP ; Ferro, JM;
PUBLISHED: 2008, SOURCE: 5th Symposium on Lysosomal Storage Disorders in CLINICAL THERAPEUTICS, VOLUME: 30
INDEXED IN: WOS
110
TITLE: Seizures, subacute dementia and ear inflammation  Full Text
AUTHORS: Oliveira, A; Cruz, V ; Coutinho, P;
PUBLISHED: 2008, SOURCE: 18th Meeting of the European-Neurological-Society in JOURNAL OF NEUROLOGY, VOLUME: 255
INDEXED IN: WOS
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