Concepedia

Hospital Maria Pia

HM

Statistics

Publications

361

Citations

15.2K

Authors

49

Location

Porto, Portugal

Hospital Maria Pia is a healthcare institution in Porto, Portugal known for life sciences, genetics, and genetic disorders.

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Publications

361

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

Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh et al. · Nature Genetics · 2004 · 521 citations · Full text

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Maria-Céu Moreira, Clara Barbot, Nobutada Tachi et al. · Nature Genetics · 2001 · 434 citations

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Judith Melki, Sonia Abdelhak, P. Sheth et al. · Nature · 1990 · 399 citations

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Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 266 citations · Full text

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1–5 of 361

Authors

49

  1. CB
    Clara Barbot

    Hospital Maria Pia, Portugal

    69 publications · 3.3K citations

    25

    h-index

  2. JB
    José Barbot

    Hospital Maria Pia, Portugal

    124 publications · 1.3K citations

    19

    h-index

  3. IC
    Inês Carrilho

    Hospital Maria Pia, Portugal

    67 publications · 1.5K citations

    14

    h-index

  4. SÁ
    Sílvia Álvares

    Hospital Maria Pia, Portugal

    66 publications · 166 citations

    8

    h-index

  5. CP
    Cristina Pereira

    Hospital Maria Pia, Portugal

    18 publications · 76 citations

    6

    h-index

1–5 of 49