Josep Gamez

Summary

Country: Spain

Publications

  1. ncbi Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?
    Josep Gamez
    Department of Neurology, Hospital Universitari Vall d Hebron, UAB, Passeig Vall d Hebron, 119 135, 08035 Barcelona, Spain
    J Neurol Sci 247:21-8. 2006
  2. doi Cellular transplants in amyotrophic lateral sclerosis patients: an observational study
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Cytotherapy 12:669-77. 2010
  3. ncbi Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time
    Josep Gamez
    Department of Neurology, Hospital Universitari Vall d Hebron, UAB, Barcelona, Spain
    Clin Neurophysiol 117:2385-91. 2006
  4. ncbi Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients
    Josep Gamez
    Department of Neurology, Hospital Gral Vall d Hebron, UAB, Passeig Vall d Hebron 119 135, 08035 Barcelona, Spain
    Clin Neurol Neurosurg 109:844-8. 2007
  5. ncbi Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
    J Gamez
    Department of Neurology, Hospital General Vall d Hebron, Barcelona, Spain
    Neurology 59:1456-60. 2002
  6. ncbi Chorea-ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Mov Disord 23:434-8. 2008
  7. ncbi Bilateral optic nerve atrophy in myotonic dystrophy
    J Gamez
    Servicio de Neurologia, Hospital Gral Vall d Hebron, Passeig Vall d Hebron, 119 125, 08035 Barcelona, Spain
    Am J Ophthalmol 131:398-400. 2001
  8. ncbi Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation
    J Gamez
    Department of Neurology, Hospital Vall d Hebron, Barcelona, Spain
    Neurology 56:450-4. 2001
  9. pmc Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    J Neurol Sci 277:167-71. 2009
  10. ncbi Influence of ectopic thymic tissue on clinical outcome following extended thymectomy in generalized seropositive nonthymomatous myasthenia gravis
    José M Ponseti
    Department of Surgery, Hospital General Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Eur J Cardiothorac Surg 34:1062-7. 2008

Collaborators

Detail Information

Publications32

  1. ncbi Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?
    Josep Gamez
    Department of Neurology, Hospital Universitari Vall d Hebron, UAB, Passeig Vall d Hebron, 119 135, 08035 Barcelona, Spain
    J Neurol Sci 247:21-8. 2006
    ..However, the prevalence of SOD1 varies in different ethnic groups. No previous epidemiological studies have been carried out in Catalonia...
  2. doi Cellular transplants in amyotrophic lateral sclerosis patients: an observational study
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Cytotherapy 12:669-77. 2010
    ..We present an observational study of Spanish ALS patients receiving cytotherapy, analyzing the experiences arising from the treatment (TX) and considering two progression markers, FVC and ALSFRS-R...
  3. ncbi Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time
    Josep Gamez
    Department of Neurology, Hospital Universitari Vall d Hebron, UAB, Barcelona, Spain
    Clin Neurophysiol 117:2385-91. 2006
    ..To assess the usefulness of brain auditory evoked potentials (BAEPs) in the study of asymptomatic white matter alterations in brain MRI observed in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients...
  4. ncbi Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients
    Josep Gamez
    Department of Neurology, Hospital Gral Vall d Hebron, UAB, Passeig Vall d Hebron 119 135, 08035 Barcelona, Spain
    Clin Neurol Neurosurg 109:844-8. 2007
    ..The purpose of this study was to investigate the influence of the number of copies of the SMN1/SMN2 genes on the resulting phenotype in 13 HirD Spanish patients...
  5. ncbi Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
    J Gamez
    Department of Neurology, Hospital General Vall d Hebron, Barcelona, Spain
    Neurology 59:1456-60. 2002
    ..The hypothesis that SMN2 is a prognostic factor in sporadic or familial ALS was not confirmed in this study...
  6. ncbi Chorea-ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Mov Disord 23:434-8. 2008
    ..These data support the idea that choreo-ballism in ALS Plus may be the result of pallido-luyso-rubro-nigral atrophy, despite not being the result of concomitant DRPLA based on neuropathological and genetic criteria...
  7. ncbi Bilateral optic nerve atrophy in myotonic dystrophy
    J Gamez
    Servicio de Neurologia, Hospital Gral Vall d Hebron, Passeig Vall d Hebron, 119 125, 08035 Barcelona, Spain
    Am J Ophthalmol 131:398-400. 2001
    ..Myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3...
  8. ncbi Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation
    J Gamez
    Department of Neurology, Hospital Vall d Hebron, Barcelona, Spain
    Neurology 56:450-4. 2001
    ..Fourteen genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified, including five types of autosomal dominant LGMD (AD-LGMD)...
  9. pmc Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    J Neurol Sci 277:167-71. 2009
    ..The present observations further expand the spectrum of clinical manifestations associated with mutations in the myotilin gene...
  10. ncbi Influence of ectopic thymic tissue on clinical outcome following extended thymectomy in generalized seropositive nonthymomatous myasthenia gravis
    José M Ponseti
    Department of Surgery, Hospital General Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Eur J Cardiothorac Surg 34:1062-7. 2008
    ..We determined the effect of detecting ectopic thymic tissue in thymectomy specimens on the long-term outcome of patients with myasthenia gravis...
  11. doi I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families
    Josep Gamez
    Department of Neurology, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Amyotroph Lateral Scler 12:70-5. 2011
    ..From a structural viewpoint, mutation at codon 112 seems to confer a severe phenotype, probably related to altered protein functionality...
  12. ncbi Post-thymectomy combined treatment of prednisone and tacrolimus versus prednisone alone for consolidation of complete stable remission in patients with myasthenia gravis: a non-randomized, non-controlled study
    José M Ponseti
    Unit of Myasthenia Gravis, Department of Surgery, Hospital General Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    Curr Med Res Opin 23:1269-78. 2007
    ..Thymectomy is a standard treatment of myasthenia gravis (MG). Immunomodulating agents are frequently given during the post-thymectomy latency period until complete remission is fully consolidated...
  13. ncbi A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance
    Gisela Nogales-Gadea
    Neurology Department, Hospital General Universitari Vall d Hebron, Servicio de Neurologia, Passeig Vall d Hebron 113 135, 08035 Barcelona, Spain
    J Neurol Sci 219:1-6. 2004
    ..Here, we report the clinical and molecular characteristics of a Spanish ALS1 family with incomplete penetrance...
  14. doi FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population
    Enrique Syriani
    Neurology Department, Hospital Universitari Vall d Hebron, Institut de Recerca, Autonomous University of Barcelona, Spain
    Amyotroph Lateral Scler 12:118-23. 2011
    ..The prevalence of this form of FALS (8%) is similar to the Dutch and British populations. FUS/TLS mutations are the second most common cause of FALS in our population...
  15. ncbi A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS
    Toni Segovia-Silvestre
    Centre d Investigacions en Bioquimica i Biologia Molecular, Hospital Gral, Universitari Vall d Hebron, Barcelona, Spain
    Amyotroph Lateral Scler Other Motor Neuron Disord 3:69-74. 2002
    ..We report on a large family with 15 affected individuals spanning five generations...
  16. ncbi A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
    Josep Gamez
    Department of Neurology, Hospital Universitari Vall d Hebron, Barcelona, Spain
    J Neurol Sci 228:35-9. 2005
    ..The mutation is predicted to produce a 6 amino acid insertion in the alpha-beta-domain of the protein. This 18-bp insertion in the thymidine phosphorylase gene is the first duplication mutation identified in MNGIE...
  17. doi The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree
    Enrique Syriani
    Neurology Department, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
    J Neurol Sci 285:46-53. 2009
    ....
  18. ncbi A comparison of long-term post-thymectomy outcome of anti-AChR-positive, anti-AChR-negative and anti-MuSK-positive patients with non-thymomatous myasthenia gravis
    José M Ponseti
    Unit of Myasthenia Gravis, Autonomous University of Barcelona, Hospital General Universitari Vall d Hebron, Department of Surgery, Barcelona, Spain
    Expert Opin Biol Ther 9:1-8. 2009
    ....
  19. doi Progressive presynaptic dopaminergic deterioration in Huntington disease: a [123I]-FP-CIT SPECT two-year follow-up study
    Josep Gamez
    From the Neurology Department, Hospital Universitari Vall d Hebron, Institut de Recerca VHIR, and Servei de Medicina Nuclear, Hospital Universitari Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain and Department of Statistics, University of Barcelona, Barcelona, Spain
    Clin Nucl Med 39:e227-8. 2014
    ....
  20. ncbi Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease
    Josep Gamez
    Centre d Investigacions en Bioquimica i Biologia Molecular, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Muscle Nerve 28:380-2. 2003
    ..These findings further expand knowledge of the genetic bases of muscle glycogen phosphorylase deficiency...
  21. doi Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy
    Mireia Tondo
    Molecular Genetics Department, Hospital Sant Joan de Deu, C Santa Rosa 39, Edifici docent, 08950 Esplugues, Barcelona, Spain
    J Neurol 259:1546-52. 2012
    ..This fact suggests that other conditions apart from the already known genotype could influence the age of onset and the severity of the symptoms...
  22. pmc Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
    Maria J Melià
    Research Group on Neuromuscular and Mitochondrial Disorders, Vall d Hebron Institut de Recerca, VHIR, Universitat Autonoma de Barcelona, Passeig Vall d Hebron, 119 129 08035 Barcelona, Spain
    Brain 136:1508-17. 2013
    ....
  23. ncbi Phenotypic variability in a Spanish family with MNGIE
    J Gamez
    Department of Neurology, Hospital Gral, Vall d Hebron, Barcelona, Spain
    Neurology 59:455-7. 2002
    ..The first thymidine phosphorylase mutation identified in Spain showed phenotypic variability at onset...
  24. pmc CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis
    Alan Lopez-Lopez
    Biochemistry and Molecular Biology Unit, Department of Physiological Sciences I, Faculty of Medicine IDIBAPS, University of Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, ISCIII, Barcelona, Spain
    PLoS ONE 9:e96528. 2014
    ..The CX3CR1 is the most potent ALS survival genetic factor reported to date. These results reinforce the role of the immune system in ALS pathogenesis...
  25. ncbi Experience with starting tacrolimus postoperatively after transsternal extended thymectomy in patients with myasthenia gravis
    José M Ponseti
    Unit of Myasthenia Gravis, Department of Surgery, Hospital General Universitari Vall d Hebron, Autonomous University of Barcelona, Spain
    Curr Med Res Opin 22:885-95. 2006
    ....
  26. doi Does reduced [(123)I]-FP-CIT binding in Huntington's disease suggest pre-synaptic dopaminergic involvement?
    Josep Gamez
    Neurology Department, Hospital Universitari Vall d Hebron, Institut de Recerca VHIR, Autonomous University of Barcelona, Passeig Vall d Hebron 119, Barcelona, Spain
    Clin Neurol Neurosurg 112:870-5. 2010
    ....
  27. pmc Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1
    Elisabeth Piñeiro
    Grup de Mutagenesi, Unitat de Genètica, Departament de Genetica i de Microbiologia, Edifici Cn, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
    Nucleic Acids Res 31:6733-40. 2003
    ....
  28. ncbi Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
    L Martorell
    Servei de Genètica, Hospital de Sant Pau, Barcelona, Spain
    Eur J Hum Genet 8:423-30. 2000
    ....
  29. ncbi A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact
    J Gamez
    Department of Neurology, Hospitals Vall d Hebron, Barcelona, Spain
    Muscle Nerve 22:1136-8. 1999
    ..These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups...
  30. ncbi Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia
    Ute Hehr
    Department of Human Genetics, University of Regensburg, Regensburg, Germany
    Ann Neurol 62:656-65. 2007
    ..We assessed the long-term course and the mutational spectrum of spatacsin-associated ARHSP with TCC...
  31. pmc Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Am J Hum Genet 73:835-48. 2003
    ..Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations...
  32. ncbi The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction
    Kurenai Tanji
    Department of Pathology of the College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
    Acta Neuropathol 105:69-75. 2003
    ..This case illustrates an unusual and dramatic clinical phenotype of the A8344G mutation, characterized by stroke-like episodes and acute ileus...