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Publications of E. Lohmann
Articles in journal or book chapters
  1. S. Lesage, E. Patin, C. Condroyer, A. L. Leutenegger, E. Lohmann, N. Giladi, A. Bar-Shira, S. Belarbi, N. Hecham, P. Pollak, A. M. Ouvrard-Hernandez, S. Bardien, J. Carr, T. Benhassine, H. Tomiyama, C. Pirkevi, T. Hamadouche, C. Cazeneuve, A. N. Basak, N. Hattori, A. Durr, M. Tazir, A. Orr-Urtreger, L. Quintana-Murci, and A. Brice. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet, 2010. Note: For the French Parkinson's Disease Genetics Study GroupJournal article. [WWW]


  2. P. Ibanez, S. Lesage, S. Janin, E. Lohmann, F. Durif, A. Destee, A. M. Bonnet, C. Brefel-Courbon, S. Heath, D. Zelenika, Y. Agid, A. Durr, and A. Brice. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol, 66(1):102-8, 2009. Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Brain Chemistry/*genetics, Chromosome Breakage, DNA Mutational Analysis, DNA Repeat Expansion/genetics, Female, Gene Dosage/genetics, Genes, Dominant/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Haplotypes/genetics, Humans, Male, Microsatellite Repeats/genetics, Middle Aged, Oligonucleotide Array Sequence Analysis, Parkinsonian Disorders/*genetics/*metabolism/physiopathology, Polymorphism, Single Nucleotide/genetics, alpha-Synuclein/*genetics.


  3. S. Lesage, C. Condroyer, A. Lannuzel, E. Lohmann, A. Troiano, F. Tison, P. Damier, S. Thobois, A. M. Ouvrard-Hernandez, S. Rivaud-Pechoux, C. Brefel-Courbon, A. Destee, C. Tranchant, M. Romana, L. Leclere, A. Durr, and A. Brice. Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease. J Med Genet, 46(7):458-64, 2009. Note: French Parkinson's Disease Genetics Study GroupLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, African Continental Ancestry Group/genetics, Aged, Aged, 80 and over, Analysis of Variance, Chi-Square Distribution, DNA Mutational Analysis/methods, European Continental Ancestry Group/genetics, Female, Gene Frequency, Humans, Male, Middle Aged, Mutation, Parkinsonian Disorders/diagnosis/*genetics, Pedigree, Protein-Serine-Threonine Kinases/*genetics.


  4. N. Limousin, E. Konofal, E. Karroum, E. Lohmann, I. Theodorou, A. Durr, and I. Arnulf. Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations. Mov Disord, 24(13):1970-1976, 2009. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]


  5. E. Lohmann, L. Leclere, F. De Anna, S. Lesage, B. Dubois, Y. Agid, A. Durr, and A. Brice. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism Relat Disord, 15(4):273-6, 2009. Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Aged, DNA Mutational Analysis/methods, *Family Health, Female, France, *Genetic Predisposition to Disease, Glycine/genetics, Humans, Male, Middle Aged, Mutation/*genetics, Neuropsychological Tests, *Olfaction Disorders/etiology/genetics/psychology, *Parkinson Disease/complications/genetics/psychology, Protein-Serine-Threonine Kinases/*genetics, Serine/genetics.


  6. E. Lohmann, S. Thobois, S. Lesage, E. Broussolle, S. T. du Montcel, M. J. Ribeiro, P. Remy, A. Pelissolo, B. Dubois, L. Mallet, P. Pollak, Y. Agid, and A. Brice. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology, 72(2):110-6, 2009. Note: French Parkinson's Disease Genetics Study GroupNS41723-01A1/NS/NINDS NIH HHS/United StatesJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Age of Onset, Aged, Antiparkinson Agents/administration & dosage/adverse effects, Cognition Disorders/diagnosis/epidemiology/*genetics, Comorbidity, DNA Mutational Analysis, Depressive Disorder/diagnosis/epidemiology/*genetics, Disease Progression, Drug Resistance/genetics, Female, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Parkinson Disease/epidemiology/*genetics/psychology, Severity of Illness Index, Ubiquitin-Protein Ligases/*genetics.


  7. M. J. Ribeiro, S. Thobois, E. Lohmann, S. T. du Montcel, S. Lesage, A. Pelissolo, B. Dubois, L. Mallet, P. Pollak, Y. Agid, E. Broussolle, A. Brice, and P. Remy. A Multitracer Dopaminergic PET Study of Young-Onset Parkinsonian Patients With and Without Parkin Gene Mutations. J Nucl Med, 2009. Note: The French Parkinson's Disease Genetics Study GroupJournal articleofficial publication, Society of Nuclear Medicine. [WWW]


  8. I. Arnulf, J. Nielsen, E. Lohmann, J. Schieffer, E. Wild, P. Jennum, E. Konofal, M. Walker, D. Oudiette, S. Tabrizi, and A. Durr. Rapid Eye Movement Sleep Disturbances in Huntington Disease. Arch Neurol, 65(4):482-488, 2008. Note: Journal article. [WWW]


  9. S. Lesage, E. Lohmann, F. Tison, F. Durif, A. Durr, and A. Brice. Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive. Hum Genet, 123(1):114, 2008. Note: Journal ArticleGermany. [WWW] Keyword(s): Amino Acid Substitution, Codon, *Genes, Recessive, Humans, Molecular Sequence Data, Parkinsonian Disorders/*genetics, Ubiquitin-Protein Ligases/chemistry/*genetics.


  10. S. Lesage, E. Lohmann, F. Tison, F. Durif, A. Durr, and A. Brice. Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. J Med Genet, 45(1):43-6, 2008. Note: French Parkinson's Disease Genetics Study GroupNS41723-01A1/NS/NINDS NIH HHS/United StatesLetterResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Alleles, Case-Control Studies, DNA Mutational Analysis, European Continental Ancestry Group, Exons/genetics, Female, France, Gene Frequency, Genetic Predisposition to Disease, *Genetic Variation, *Heterozygote, Humans, Male, Middle Aged, Parkinson Disease/*genetics/physiopathology, Point Mutation, Ubiquitin-Protein Ligases/*genetics.


  11. E. Lohmann, L. Leclere, F. De Anna, S. Lesage, B. Dubois, Y. Agid, A. Durr, and A. Brice. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism Relat Disord, 2008. Note: The French Parkinson's Disease Genetics Study GroupJournal article. [WWW]


  12. E. Lohmann, M. L. Welter, V. Fraix, P. Krack, S. Lesage, S. Laine, M. L. Tanguy, J. L. Houeto, V. Mesnage, P. Pollak, A. Durr, Y. Agid, and A. Brice. Are parkin patients particularly suited for deep-brain stimulation?. Mov Disord, 23(5):740-3, 2008. Note: French Parkinson's Disease Genetics study groupNS41723-01A1/NS/United States NINDSJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adult, Aged, Antiparkinson Agents/adverse effects/therapeutic use, DNA Mutational Analysis, *Deep Brain Stimulation, Dyskinesia, Drug-Induced, Female, Follow-Up Studies, Genetic Screening, Heterozygote, Homozygote, Humans, Levodopa/adverse effects/therapeutic use, Male, Middle Aged, Mutation, Parkinsonian Disorders/*genetics/*therapy, Treatment Outcome, Ubiquitin-Protein Ligases/*genetics.


  13. I. Arnulf, J. E. Nielsen, E. Lohmann, J. Schiefer, E. Wild, P. Jennum, E. Konofal, M. Walker, D. Oudiette, S. Tabrizi, and A. Durr. REM sleep distrubances in Huntington disease. Arch Neurol, pp in-presse, 2007.


  14. S. Lesage, S. Janin, E. Lohmann, A. L. Leutenegger, L. Leclere, F. Viallet, P. Pollak, F. Durif, S. Thobois, V. Layet, M. Vidailhet, Y. Agid, A. Durr, A. Brice, A. M. Bonnet, M. Borg, E. Broussolle, P. Damier, A. Destee, M. Martinez, C. Penet, O. Rasco, F. Tison, C. Tranchan, and M. Verin. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Arch Neurol, 64(3):425-30, 2007. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis/methods, Europe, Exons/*genetics, Female, Histidine/genetics, Humans, Male, Middle Aged, *Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics, Serine/genetics, Threonine/genetics, Tyrosine/genetics.


  15. S. Lesage, L. Leclere, E. Lohmann, M. Borg, M. Ruberg, A. Durr, and A. Brice. Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neurodegener Dis, 4(2-3):195-8, 2007. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tSwitzerland. [WWW]


  16. S. Lesage, P. Magali, E. Lohmann, L. Lacomblez, H. Teive, S. Janin, P. Y. Cousin, A. Durr, and A. Brice. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum Mutat, 28(1):27-32, 2007. Note: French Parkinson Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  17. E. Lohmann, S. Thobois, S. Laine, S. Tezenas, E. Broussolle, P. Pollak, L. Mallet, B. Dubois, Y. Agid, and A. Brice. A detailed clinical study of early-onset Parkinson patients. Mov Disord, 22:S132-S133, 2007. Note: Suppl. 16. [WWW]


  18. M. Schupbach, E. Lohmann, M. Anheim, S. Lesage, V. Czernecki, S. Yaici, Y. Worbe, P. Charles, M. L. Welter, P. Pollak, A. Durr, Y. Agid, and A. Brice. Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations. Mov Disord, 22(1):119-22, 2007. Note: Clinical TrialComparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adult, Aged, Deep Brain Stimulation/*methods, Female, Glycine/genetics, Humans, Male, Middle Aged, *Mutation, *Parkinsonian Disorders/genetics/pathology/therapy, Protein-Serine-Threonine Kinases/*genetics, Retrospective Studies, Serine/genetics, Subthalamic Nucleus/physiology/*surgery, Threonine/genetics.


  19. P. Ibanez, S. Lesage, E. Lohmann, S. Thobois, G. De Michele, M. Borg, Y. Agid, A. Durr, and A. Brice. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain, 129(Pt 3):686-94, 2006. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsCase ReportsJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Amino Acid Sequence, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Molecular Sequence Data, *Mutation, Parkinsonian Disorders/*genetics, Pedigree, Protein Kinases/*genetics, Sequence Alignment, Ubiquitin-Protein Ligases/genetics.


  20. S. Lesage, A. Durr, M. Tazir, E. Lohmann, A. L. Leutenegger, S. Janin, P. Pollak, and A. Brice. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med, 354(4):422-3, 2006. Note: French Parkinson's Disease Genetics Study GroupLetterUnited States. [WWW] Keyword(s): Africa, Northern/ethnology, Arabs/*genetics, Heterozygote, Homozygote, Humans, Middle Aged, Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics.


  21. A. L. Leutenegger, M. A. Salih, P. Ibanez, M. M. Mukhtar, S. Lesage, A. Arabi, E. Lohmann, A. Durr, A. E. Ahmed, and A. Brice. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol, 63(9):1257-61, 2006. Note: Ns 41723-01a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralUnited States. [WWW] Keyword(s): Adenosine Triphosphate/*metabolism, Adolescent, Adult, Age of Onset, Alanine/genetics, Amino Acid Sequence, Aspartic Acid/genetics, DNA Mutational Analysis, *Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, *Mutation, Parkinsonian Disorders/*genetics, Protein Kinases/*genetics, Sudan.


  22. S. Lesage, P. Ibanez, E. Lohmann, P. Pollak, F. Tison, M. Tazir, A. L. Leutenegger, J. Guimaraes, A. M. Bonnet, Y. Agid, A. Durr, and A. Brice. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol, 58(5):784-7, 2005. Note: French Parkinson's Disease Genetics Study GroupComparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Africa, Northern/epidemiology/ethnology, Aged, Aged, 80 and over, DNA Mutational Analysis/methods, *Family Health, Female, France/epidemiology/ethnology, Gene Frequency, Genetic Predisposition to Disease, Genotype, Glycine/*genetics, Humans, Male, Mental Status Schedule/statistics & numerical data, Middle Aged, *Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics, Serine/*genetics.


  23. S. Lesage, A. L. Leutenegger, P. Ibanez, S. Janin, E. Lohmann, A. Durr, and A. Brice. LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet, 77(2):330-2, 2005. Note: French Parkinson's Disease Genetics Study GroupLetterResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Africa, Northern, African Continental Ancestry Group, European Continental Ancestry Group, Family Health, *Founder Effect, Genetic Markers, Genotype, *Haplotypes, Humans, Microsatellite Repeats, Middle Aged, *Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics.


  24. P. Ibanez, A. M. Bonnet, B. Debarges, E. Lohmann, F. Tison, P. Pollak, Y. Agid, A. Durr, and A. Brice. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet, 364(9440):1169-71, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Female, *Gene Duplication, Humans, Lewy Body Disease/genetics, Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Nerve Tissue Proteins/*genetics, Parkinson Disease/*genetics, Phenotype, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.


  25. P. Ibanez, E. Lohmann, P. Pollak, F. Durif, C. Tranchant, Y. Agid, A. Durr, and A. Brice. Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. Neurology, 62(11):2133-4, 2004. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, DNA Mutational Analysis, DNA-Binding Proteins/*genetics, Europe/ethnology, Exons/genetics, Female, France/epidemiology, Genes, Dominant, Humans, Male, Middle Aged, Parkinson Disease/epidemiology/*genetics, Transcription Factors/*genetics.


  26. G. Stevanin, V. Hahn, E. Lohmann, N. Bouslam, M. Gouttard, C. Soumphonphakdy, M. L. Welter, E. Ollagnon-Roman, A. Lemainque, M. Ruberg, A. Brice, and A. Durr. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol, 61(8):1242-8, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Amino Acid Sequence, Base Sequence, Brain/pathology, Catalytic Domain/*genetics, Chromosomes, Human, Pair 19/enzymology/genetics, Female, Humans, Linkage (Genetics)/genetics, Male, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Pedigree, *Phenotype, Protein Kinase C/*genetics, Spinocerebellar Ataxias/*enzymology/*genetics/pathology.


  27. P. Ibanez, G. De Michele, V. Bonifati, E. Lohmann, S. Thobois, P. Pollak, Y. Agid, P. Heutink, A. Durr, and A. Brice. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology, 61(10):1429-31, 2003. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Child, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, *Mutation, Oncogene Proteins/*genetics, Parkinsonian Disorders/diagnosis/*genetics.


  28. E. Lohmann, M. Periquet, V. Bonifati, N. W. Wood, G. De Michele, A. M. Bonnet, V. Fraix, E. Broussolle, M. W. Horstink, M. Vidailhet, P. Verpillat, T. Gasser, D. Nicholl, H. Teive, S. Raskin, O. Rascol, A. Destee, M. Ruberg, F. Gasparini, G. Meco, Y. Agid, A. Durr, and A. Brice. How much phenotypic variation can be attributed to parkin genotype?. Ann Neurol, 54(2):176-85, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Antiparkinson Agents/therapeutic use, Disease Progression, Exons/genetics, Female, Genotype, Heterozygote, Humans, Levodopa/therapeutic use, Male, Middle Aged, Mutation/genetics, Mutation, Missense/genetics, Parkinson Disease/drug therapy/*genetics/physiopathology, Phenotype, Ubiquitin-Protein Ligases/*genetics, Variation (Genetics)/*genetics.


  29. C. B. Lucking, V. Chesneau, E. Lohmann, P. Verpillat, C. Dulac, A. M. Bonnet, F. Gasparini, Y. Agid, A. Durr, and A. Brice. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol, 60(9):1253-6, 2003. Note: R01 ns41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Ligases/*genetics, Male, Middle Aged, Parkinson Disease/epidemiology/*genetics, Polymorphism, Genetic/*genetics, *Ubiquitin-Protein Ligases.


  30. M. Periquet, M. Latouche, E. Lohmann, N. Rawal, G. De Michele, S. Ricard, H. Teive, V. Fraix, M. Vidailhet, D. Nicholl, P. Barone, N. W. Wood, S. Raskin, J. F. Deleuze, Y. Agid, A. Durr, and A. Brice. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain, 126(Pt 6):1271-8, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.Englanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Base Sequence, Child, DNA, Complementary/genetics, Female, *Genetic Predisposition to Disease, Humans, Ligases/*genetics, Male, Middle Aged, Molecular Sequence Data, *Mutation, Parkinsonian Disorders/*genetics, Point Mutation, Polymerase Chain Reaction, *Ubiquitin-Protein Ligases.


  31. N. Rawal, M. Periquet, E. Lohmann, C. B. Lucking, H. A. Teive, G. Ambrosio, S. Raskin, S. Lincoln, N. Hattori, J. Guimaraes, M. W. Horstink, W. Dos Santos Bele, E. Brousolle, A. Destee, Y. Mizuno, M. Farrer, J. F. Deleuze, G. De Michele, Y. Agid, A. Durr, and A. Brice. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology, 60(8):1378-81, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's Disease1 r01 ns41723â\texteuro``01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Codon, Nonsense, DNA Mutational Analysis, Exons/genetics, Female, Genes, Recessive, Humans, Male, Middle Aged, Phenotype, Point Mutation, Polymerase Chain Reaction, RNA Splice Sites/genetics, Ubiquitin-Protein Ligases/*genetics.


  32. S. Thobois, M. J. Ribeiro, E. Lohmann, A. Durr, P. Pollak, O. Rascol, S. Guillouet, E. Chapoy, N. Costes, Y. Agid, P. Remy, A. Brice, and E. Broussolle. Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. Arch Neurol, 60(5):713-8, 2003. Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Corpus Striatum/metabolism, Dihydroxyphenylalanine/*analogs & derivatives/diagnostic use, Female, Fluorine Radioisotopes/diagnostic use, Humans, Ligases/*genetics, Male, Middle Aged, Parkinson Disease/*genetics/metabolism/*radionuclide imaging, Severity of Illness Index, Substantia Nigra/metabolism, *Tomography, Emission-Computed, *Ubiquitin-Protein Ligases.



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