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2. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A
- Author
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Brancati, F, Valente, EM, Davies, NP, Sarkozy, A, Sweeney, MG, LoMonaco, M, Pizzuti, A, Hanna, MG, and Dallapiccola, B
- Subjects
Gene mutations -- Analysis -- Case studies ,Children -- Diseases ,Familial periodic paralysis -- Causes of -- Genetic aspects -- Case studies -- Research -- Analysis ,Statistics -- Case studies -- Analysis ,Myotonia -- Causes of -- Genetic aspects -- Case studies -- Research -- Analysis ,Health ,Psychology and mental health ,Analysis ,Genetic aspects ,Case studies ,Research ,Causes of - Abstract
Hyperkalaemic periodic paralysis (hyperPP) and paramyotonia congenita (PMC) are autosomal dominant allelic diseases caused by mutations in the skeletal muscle voltage gated sodium channel gene (SCN4A) on chromosome 17q23. (1) [...]
- Published
- 2003
3. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy
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Klionsky, Dj, Abdelmohsen, K, Abe, A, Abedin, Mj, Abeliovich, H, Acevedo Arozena, A, Adachi, H, Adams, Cm, Adams, Pd, Adeli, K, Adhihetty, Pj, Adler, Sg, Agam, G, Agarwal, R, Aghi, Mk, Agnello, M, Agostinis, P, Aguilar, Pv, Aguirre-Ghiso, J, Airoldi, Em, Ait-Si-Ali, S, Akematsu, T, Akporiaye, Et, Al-Rubeai, M, Albaiceta, Gm, Albanese, C, Albani, D, Albert, Ml, Aldudo, J, Algül, H, Alirezaei, M, Alloza, I, Almasan, A, Almonte-Beceril, M, Alnemri, Es, Alonso, C, Altan-Bonnet, N, Altieri, Dc, Alvarez, S, Alvarez-Erviti, L, Alves, S, Amadoro, G, Amano, A, Amantini, C, Ambrosio, S, Amelio, I, Amer, Ao, Amessou, M, Amon, A, An, Z, Anania, Fa, Andersen, Su, Andley, Up, Andreadi, Ck, Andrieu-Abadie, N, Anel, A, Ann, Dk, Anoopkumar-Dukie, S, Antonioli, M, Aoki, H, Apostolova, N, Aquila, S, Aquilano, K, Araki, K, Arama, E, Aranda, A, Araya, J, Arcaro, A, Arias, E, Arimoto, H, Ariosa, Ar, Armstrong, Jl, Arnould, T, Arsov, I, Asanuma, K, Askanas, V, Asselin, E, Atarashi, R, Atherton, Ss, Atkin, Jd, Attardi, Ld, Auberger, P, Auburger, G, Aurelian, L, Autelli, R, Avagliano, L, Avantaggiati, Ml, Avrahami, L, Awale, S, Azad, N, Bachetti, Tiziana, Backer, Jm, Bae, Dh, Bae, Js, Bae, On, Bae, Sh, Baehrecke, Eh, Baek, Sh, Baghdiguian, S, Bagniewska-Zadworna, A, Bai, H, Bai, J, Bai, Xy, Bailly, Y, Balaji, Kn, Balduini, W, Ballabio, A, Balzan, R, Banerjee, R, Bánhegyi, G, Bao, H, Barbeau, B, Barrachina, Md, Barreiro, E, Bartel, B, Bartolomé, A, Bassham, Dc, Bassi, Mt, Bast RC Jr, Basu, A, Batista, Mt, Batoko, H, Battino, M, Bauckman, K, Baumgarner, Bl, Bayer, Ku, Beale, R, Beaulieu, Jf, Beck GR Jr, Becker, C, Beckham, Jd, Bédard, Pa, Bednarski, Pj, Begley, Tj, Behl, C, Behrends, C, Behrens, Gm, Behrns, Ke, Bejarano, E, Belaid, A, Belleudi, F, Bénard, G, Berchem, G, Bergamaschi, D, Bergami, M, Berkhout, B, Berliocchi, L, Bernard, A, Bernard, M, Bernassola, F, Bertolotti, A, Bess, As, Besteiro, S, Bettuzzi, S, Bhalla, S, Bhattacharyya, S, Bhutia, Sk, Biagosch, C, Bianchi, Mw, 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J, Zeng, M, Zeng, Q, Zervos, As, Zhang, Dd, Zhang, F, Zhang, G, Zhang, Gc, Zhang, H, Zhang, J, Zhang, Jp, Zhang, L, Zhang, My, Zhang, X, Zhang, Xd, Zhang, Y, Zhao, M, Zhao, Wl, Zhao, X, Zhao, Yg, Zhao, Y, Zhao, Yx, Zhao, Z, Zhao, Zj, Zheng, D, Zheng, Xl, Zheng, X, Zhivotovsky, B, Zhong, Q, Zhou, Gz, Zhou, G, Zhou, H, Zhou, Sf, Zhou, Xj, Zhu, H, Zhu, Wg, Zhu, W, Zhu, Xf, Zhu, Y, Zhuang, Sm, Zhuang, X, Ziparo, E, Zois, Ce, Zoladek, T, Zong, Wx, Zorzano, A, and Zughaier, Sm
- Published
- 2016
4. Update on blepharospasm: Report from the BEBRF International Workshop
- Author
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Hallett, M, Evinger, C, Jankovic, J, Stacy, M, BEBRF International WorkshopAli, M, Berardelli, Alfredo, Daroff, Rb, Defazio, G, Delong, M, Eidelberg, D, Foote, K, Hattori, N, Katz, B, Nguyen, Qt, Lehericy, S, Meunier, S, Morecraft, Rj, Ozelius, Lj, Patrinely, Jr, Peckham, E, Perl, Dp, Perlmutter, Js, Scott, Ab, Singleton, A, Tolosa, E, Valente, Em, Valls Solé, J, and Wang, J. J.
- Subjects
medicine.medical_specialty ,Photophobia ,Apraxias ,Blepharospasm ,Apraxia ,Education ,medicine ,Animals ,Humans ,Views & Reviews ,Focal dystonia ,medicine.disease ,Dermatology ,eye diseases ,Botulinum neurotoxin ,Pathophysiology ,Surgery ,medicine.anatomical_structure ,Dystonic Disorders ,Oculomotor Muscles ,Neurology (clinical) ,Eyelid ,medicine.symptom ,Psychology ,Dystonic disorder - Abstract
This review updates understanding and research on blepharospasm, a subtype of focal dystonia. Topics covered include clinical aspects, pathology, pathophysiology, animal models, dry eye, photophobia, epidemiology, genetics, and treatment. Blepharospasm should be differentiated from apraxia of eyelid opening. New insights into pathology and pathophysiology are derived from different types of imaging, including magnetic resonance studies. Physiologic studies indicate increased plasticity and trigeminal sensitization. While botulinum neurotoxin injections are the mainstay of therapy, other therapies are on the horizon.
- Published
- 2008
5. Handb Clin Neurol vol 113 - Pediatric Neurology Part III
- Author
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Valente EM, Dallapiccola B, Bertini E / O. Dulac, M. Lassonde, and H.B. Sarnat, Editors, Valente EM, Dallapiccola B, Bertini E / O. Dulac, M. Lassonde, H.B. Sarnat, and Editors
- Published
- 2013
6. Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
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Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, RS, Sellbach, A, O'Sullivan, JD, Sutherland, GT, Siebert, GA, Dissanayaka, NN, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, PP, Cras, P, Lang, AE, Tzourio, C, Amouyel, P, Loriot, MA, Mutez, E, Duflot, A, Legendre, JP, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, EM, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, MR, Tarantino, P, Annesi, F, Gagliardi, M, Jeon, BS, Klodowska-Duda, G, Boczarska-Jedynak, M, Tan, EK, Belin, AC, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Lin, JJ, Maraganore, DM, Ahlskog, J, de Andrade, M, Lesnick, TG, Rocca, WA, Checkowa, H, Ross, OA, Wszolek, ZK, Uitti, RJ, Pathologic Biochemistry and Physiology, GEO-PD Consortium, Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, R, Sellbach, A, O'Sullivan, J, Sutherland, G, Siebert, G, Dissanayaka, N, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, P, Cras, P, Tzourio, C, Amouyel, P, Loriot, M, Mutez, E, Duflot, A, Legendre, J, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, E, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, M, Tarantino, P, Annesi, F, Gagliardi, M, Klodowska-Duda, G, Boczarska-Jedynak, M, Belin, A, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Ahlskog, J, de Andrade, M, Lesnick, T, Rocca, W, and Checkowa, H
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Male ,Age at onset ,confidence interval ,Genetic Epidemiology of Parkinson's Disease ,Parkinson disease ,spinocerebellar ataxia ,Nerve Tissue Proteins ,Disease ,Biology ,Parkinson Disease/epidemiology ,Trinucleotide Repeat Expansion/genetics ,Gene Frequency ,Ataxins/genetics ,Humans ,Nerve Tissue Proteins/genetics ,Genetic Predisposition to Disease ,Risk factor ,Allele frequency ,Nuclear Protein ,Aged ,risk ,Genetics ,Medicine(all) ,Nuclear Proteins ,Parkinson Disease ,Ataxin ,Odds ratio ,Middle Aged ,Phenotype ,Nuclear Proteins/genetics ,Genetic epidemiology ,Ataxins ,Gene Frequency/genetics ,Nerve Tissue Protein ,Peptide ,Cohort ,Female ,Neurology (clinical) ,Human medicine ,Trinucleotide repeat expansion ,Peptides ,Trinucleotide Repeat Expansion ,Peptides/genetics ,Human - Abstract
Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson9s Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. Results: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. Conclusions: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD.
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- 2015
7. Un nuovo caso di delezione terminale 6q associata a parziale agenesia del corpo calloso
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Travaglini L, Vitiello G, D'Amico A, David E, De Clemente V, Ferraris A, Berbardini L, Bertini E, Valente EM, DEL GIUDICE, ENNIO, Travaglini, L, Vitiello, G, D'Amico, A, David, E, De Clemente, V, Ferraris, A, Berbardini, L, Bertini, E, Valente, Em, and DEL GIUDICE, Ennio
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- 2011
8. Parkinson disease genetics. A 'continuum' from mendelian to multifactorial inheritance
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Federica Consoli, Simona Petrucci, and Valente Em
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Genome-wide association study ,Biology ,medicine.disease_cause ,Biochemistry ,symbols.namesake ,genetics ,monogenic ,multifactorial ,parkinson disease ,parkinsonism ,risk factor ,medicine ,Genetic predisposition ,Molecular Biology ,Genetics ,Mutation ,Parkinsonism ,General Medicine ,medicine.disease ,Fragile X syndrome ,Mendelian inheritance ,symbols ,Spinocerebellar ataxia ,Molecular Medicine ,Multifactorial Inheritance - Abstract
Parkinson Disease (PD) is a common neurodegenerative disorder of intricate etiology, caused by progressive loss of aminergic neurons and accumulation of Lewy bodies. The predominant role of genetics in the etiology of the disease has emerged since the identification of the first pathogenetic mutation in SNCA (alpha-synuclein) gene, back in 1997. Mendelian parkinsonisms, a minority among all PD forms, have been deeply investigated, with 19 loci identified. More recently, genome wide association studies have provided convincing evidence that variants in some of these genes, as well as in other genes, may confer an increased risk for late onset, sporadic PD. Moreover, the finding that heterozygous mutations in the GBA gene (mutated in Gaucher disease) are among the strongest genetic susceptibility factors for PD, has widened the scenario of PD genetic background to enclose a number of genes previously associated to distinct disorders, such as genes causative of spinocerebellar ataxias, mitochondrial disorders and fragile X syndrome. At present, the genetic basis of PD defines a continuum from purely mendelian forms (such as those caused by autosomal recessive genes) to multifactorial inheritance, resulting from the variable interplay of many distinct genetic variants and environmental factors.
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- 2014
9. Joubert syndrome: cerebellar congenital ataxia with the molar tooth
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Romani M, Micalizzi A, and Valente EM.
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- 2013
10. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity
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Kojovic, M, Pareés, I, Lampreia, T, Pienczk-Reclawowicz, K, Xiromerisiou, G, Rubio-Agusti, I, Kramberger, M, Carecchio, M, Alazami, Am, Brancati, F, Slawek, J, Pirtosek, Z, Valente, Em, Alkuraya, Fs, Edwards, Mj, and Bhatia, Kp.
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Adult ,Male ,Adolescent ,Young Adult ,Genetic Heterogeneity ,Deaf-Blind Disorders ,Intellectual Disability ,Mitochondrial Precursor Protein Import Complex Proteins ,Deafness-dystonia syndrome ,Mitochondrial disorders ,Mohr-Tranebjaerg syndrome ,Woodhouse-Sakati syndrome ,Age of Onset ,Apoptosis Regulatory Proteins ,DNA-Binding Proteins ,Disease Progression ,Dystonia ,Family Health ,Female ,Genetic Testing ,Humans ,Leviviridae ,Membrane Transport Proteins ,Middle Aged ,Mutation ,Nuclear Proteins ,Optic Atrophy ,Retrospective Studies ,Ubiquitin-Protein Ligase Complexes - Abstract
The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions.
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- 2013
11. PARK6-linked parkinsonism occurs in several European families
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Valente, Em, Brancati, F, Ferraris, A, Graham, Ea, Davis, Mb, Breteler, Mm, Gasser, T, Bonifati, V, Bentivoglio, Ar, Dürr, A, Cortelli, P, Wassilowsky, D, Harhangi, Bs, Rawal, N, Caputo, V, Meco, G, Oostra, Ba, Brice, A, Albanese, A, Dallapiccola, B, Wood, Nw, European, Consortium on Genetic Susceptibility in Parkinson's D.i.s.e.a.s.e., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Valente, Em, Brancati, F, Ferraris, A, Graham, Ea, Davis, Mb, Breteler, Mm, Gasser, T, Bonifati, V, Bentivoglio, Ar, DE MICHELE, Giuseppe, Dürr, A, Cortelli, P, Wassilowsky, D, Harhangi, B, Rawal, N, Caputo, V, Filla, Alessandro, Meco, G, Oostra, Ba, Brice, A, Albanese, A, Dallapiccola, B, Wood, Nw, and European, Consortium on Genetic Susceptibility in Parkinson's D. i. s. e. a. s. e.
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Pair 1, Europe, Family Health, Female, Founder Effect, Genetic Linkage, Haplotypes, Humans, Levodopa ,therapeutic use, Male, Middle Aged, Parkinson Disease ,therapeutic use, Chromosome ,Adult, Age of Onset, Antiparkinson Agent ,Human ,drug therapy/genetics, Pedigree, Phenotype - Abstract
The Parkin gene on 6q25.2-27 is responsible for about 50\% of autosomal recessive juvenile parkinsonism and less than 20\% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.
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- 2002
12. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
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Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attixe9-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, and Gleeson JG.
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- 2012
13. Morphological analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death
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Settimini, L, Lenzi, Paola, Falleni, Alessandra, Valente, Em, Fornai, Francesco, and Paparelli, Antonio
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PINK1 ,Parkinson’s disease ,methamphetamine ,mitophagy ,apoptosis - Abstract
Mutations in the PTEN-induced putative kinase1 (PINK1) represent the second most common cause of autosomal recessive Parkinson’s disease. The PINK1 protein has a mitochondrial localization and interacts with a variety of proteins, including the pro-autophagy protein beclin1 and the ubiquitin-ligase parkin. In particular, PINK1 is able to recruit parkin to the surface of dysfunctional mitochondria, to promote the ubiquitination of several mitochondrial proteins and the subsequent activation of the mitophagy cascade. Aim of this study was to use a dopaminergic cell model and transmission electron microscopy to characterize whether the modulation of PINK1 expression: (i) modifies the number and morphology of mitochondria and of autophagy organelles (autophagosomes); (ii) alters the recruitment of beclin1, parkin and ubiquitin to the mitochondria; (iii) affects cell survival. We used PC12 cells transfected either with the empty vector (pcDNA), or vectors expressing wild type PINK1 (PINK1wt), a pathogenic mutant (PINK1W437X), shRNA against rat PINK1 (shPINK1) or scramble (shSCR). Samples were analyzed both in baseline conditions and following methamphetamine (METH) treatment to provide a neurotoxic, autophagy-dependent stimulation. We showed that, especially upon METH exposure, the modulation of PINK1 levels dramatically affected the morphology and clearance of mitochondria. In fact, the number of abnormal mitochondria was reduced in PINK1wt, while it was significantly increased upon shPINK1 and also, to a lesser extent, in PINK1W437X cells. In keeping with this, mitochondrial ubiquitin clusters and mitochondrial levels of parkin and beclin1 were increased in PINK1wt cells while they were reduced both in PINK1 silenced and PINK1W437X cells. Interestingly, the number of autophagic vacuoles was unaffected by PINK1 modulation in baseline conditions, and was significantly reduced only in cells lacking functional PINK1 and upon METH exposure. All these effects were significantly associated with a modulation of apoptotic cell death. Our data provide robust sub-cellular evidence that PINK1 counteracts neurodegeneration by simultaneously recruiting beclin1, parkin and ubiquitin and thus enhancing the clearance of damaged mitochondria. In the absence of functional PINK1 and upon autophagy stress, we observed a failure of the autophagy system at large, with marked accumulation of dysfunctional mitochondria and dramatic increase in apoptotic cell death., Italian Journal of Anatomy and Embryology, Vol 116, No 1 (Supplement) 2011
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- 2011
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14. The relevance of PTEN-induced kinase I (PINK1) in the fate of mitochondria related to dopaminergic survival
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Lazzeri, Gloria, Lenzi, Paola, Valente, Em, Tamburini, I, Paparelli, Antonio, and Fornai, Francesco
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- 2010
15. Brain-derived neurotrophic factor and risk of primari adult-onset cranial-cervical dystonia
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Martino, D, Muglia, M, Abbruzzese, Giovanni, Berardelli, A, Girlanda, P, Liguori, M, Livrea, P, Quattrone, A, Roselli, F, Sprovieri, T, Valente, Em, and Defazio, G.
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- 2009
16. Influence of the DYT1 gene polymorphism rs1182 on the risk of spread in patients with primary blepharospasm
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Martino, D, Defazio, G, Abbruzzese, G, Berardelli, A, Brancati, F, Girlanda, Paolo, Peckham, E, Singleton, Ab, Valente, Em, and Hallett, M.
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- 2008
17. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
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Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, Jl, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, Jg, and Valente, Em
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- 2008
18. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
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Cantagrel, V, Silhavy, Jl, Bielas, S, Swistun, D, Marsh, Se, Bertrand, J, Audollent, S, Attié Bitach, T, Holden, Kr, Dobyns, Wb, Traver, D, Al Gazali, L, Ali, Br, Lindner, Th, Caspary, T, Otto, Ea, Hildebrandt, F, Glass, Ia, Logan, Cv, Johnson, Ca, Bennett, C, Brancati, F, Grattan Smith, P, Leventer, J, Van Coster, R, Dias, K, Moco, C, Moreira, Ae Kim, C, Akiss, A, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Marti, I, Quijano Roy, S, de Lonlay, P, Verloes A, A., Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Magee, A, Stuart, B, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, Giordano, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Lapi, E, Genuardi, M, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, Silvana, Tortorella, Gaetano, Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Fazz, Ei, Sabrina, S, Battini, R, Bertini, E, Dallapiccola, B, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Ahmad Aqueel, A, Jong, Mm, Koul, R, Rajab, A, Sztriha, L, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Eugen Boltshauser, E, Hulya, H, Comu, S, Akcakus, M, Sahin, Y, Phadke, Sr, Melick, N, Mikati, M, Nicholl, D, Hurst, J, Hennekam, Rcm, Bernes, S, Sanchez, H, Clark, Ae, Wynshaw Boris, A, Donahue, C, Sherr, Eh, Barkovich, Aj, Hahn, D., Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh CA, Soul, Jmckanna, T, Joanne Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Amy Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Cruse, Rp, Lotzete, Swoboda, Kj, Viskochil, Dh, Valente, Em, Woods, Cg, and Gleeson, Jg
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Cerebellum ,Ataxia ,TMEM67 ,Molecular Sequence Data ,Biology ,Joubert Syndrome ,Joubert syndrome ,Article ,cilia gene ARL13B ,mutation ,03 medical and health sciences ,0302 clinical medicine ,Ciliogenesis ,INPP5E ,medicine ,Genetics ,Animals ,Humans ,Genetics(clinical) ,Abnormalities, Multiple ,Genetic Predisposition to Disease ,Cilia ,Genetics (clinical) ,Conserved Sequence ,Zebrafish ,030304 developmental biology ,Neurons ,0303 health sciences ,Brain Diseases ,ADP-Ribosylation Factors ,Cilium ,Chromosome Mapping ,Computational Biology ,Syndrome ,Mutation ,medicine.disease ,Cell biology ,medicine.anatomical_structure ,RPGRIP1L ,medicine.symptom ,Abnormalities ,Multiple ,030217 neurology & neurosurgery - Abstract
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs.
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- 2008
19. Diffusion tensor imaging in Joubert syndrome
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Poretti, A, Boltshauser, E, Loenneker, T, Valente, Em, Brancati, F., Il'Yasov, K, and Huisman, Ta
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- 2007
20. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
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Brancati, F, Barrano, G, Silhavy, Jl, Marsh, Se, Travaglini, L, Bielas, Sl, Amorini, M, Zablocka, D, Kayserili, H, Al Gazali, L, Bertini, E, Boltshauser, E, D'Hooghe, M, Fazzi, E, Fenerci, Ey, Hennekam, Rc, Kiss, A, Lees, Mm, Marco, E, Phadke, Sr, Rigoli, L, Romano, S, Salpietro, Cd, Sherr, Eh, Signorini, S, Stromme, P, Stuart, B, Sztriha, L, Viskochil, Dh, Yuksel, A, Dallapiccola, [International JSRD Study Group], Valente, Em, Gleeson, Jg, Smith, P, Leventer, R, Janecke, A, Van Coster, R, Dias, K, Moco, C, Moreira, A, Chong, Ak, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Martu, I, Quijano Roy, S, De Lonlay, P, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdotir, J, Ludvigsson, P, Magee, A, Lev, D, Michelson, M, Ben Zev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Boccone, L, Ruggieri, Martino, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Cardidi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Tortorella, G, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Lavercla, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Aqeel, A, De Jong MM, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Comu, S, Akcakus, M, Nicholl, D, Woods, Cg, Bennet, C, Hurst, J, Walsh, Ca, Bernes, S, Sanchez, H, Clark, Ae, Donahue, C, Hahn, J, Sanger, Td, Gallager, Te, Dobyns, Wb, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, and Swoboda, Kj
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- 2007
21. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
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Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, Ms, Abdel Aleem, A, Abdel Salam GM, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, Ks, Lagier Tourenne, C, Magee, A, Pascual Castroviejo, I, SALPIETRO DAMIANO, Carmelo, Sarco, D, Richard, Leventer, Padraic Grattan Smith, Andreas, Janecke, Marc, D’Hooghe, Rudy Van Coster, Karin, Dias, Carla, Moco, Ana, Moreira, Chong Ae Kim, Gustavo, Maegawa, Itxaso, Marti, Susana Quijano Roy, Alain, Verloes, Renaud, Touraine, Miche, Bernard, Stuart, Dorit, Lev, Bruria Ben Zeev, Rita, Fischetto, Mattia, Gentile, Lucio, Giordano, Loredana, Boccone, Martino, Ruggieri, Stefania, Bigoni, Maria Alide Donati, Elena, Procopio, Gianluca, Caridi, Francesca, Faravelli, Gianmarco, Ghiggeri, Briuglia, Silvana, Gaetano, Tortorella, Stefano, D’Arrigo, Chiara, Pantaleoni, Daria, Riva, Graziella, Uziel, Stefania, Bova, Elisa, Fazzi, Sabrina, Signorini, Maria Roberta Cilio, Marilu` Di Sabato, Francesco, Emma, Vincenzo, Leuzzi, Pasquale, Parisi, Alessandro, Simonati, de Jong, Mirjam M., Matloob, Azam, Berta, Rodriguez, Hulya, Kayserili, Lihadh Al Gazali, Laszlo, Sztriha, David, Nicholl, Geoffrey Woods, C., Raoul, Hennekam, Saunder, Bernes, Henry, Sanchez, Clark, Aldon E., Elysa, Demarco, Clement, Donahue, Elliot, Sherr, Jin, Hahn, Terence, D, Sanger, Gallager H, Tomas E., Cynthia, Daugherty, Walsh, Christopher A., Trudy, Mckanna, Joanne, Milisa, Chung, Wendy K., De Vivo, Darryl C., Hillary, Raynes, Romaine, Schubert, Alison, Seward, Brooks, David G., Amy, Goldstein, James, Caldwell, Eco, Finsecke, Kenton, Holden, Swobod, Kathryn J., Dave Viskochil, Dallapiccola, B, and Gleeson, Jg
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Male ,Models, Molecular ,Developmental Disabilities ,DNA Mutational Analysis ,Chromosome Disorders ,Gene mutation ,medicine.disease_cause ,Gene Frequency ,Models ,Missense mutation ,Adaptor Proteins, Signal Transducing ,Adolescent ,Adult ,Animals ,Brain Diseases ,Brain Stem ,Child ,Child, Preschool ,Family Health ,Female ,Humans ,Infant ,Magnetic Resonance Imaging ,Polymorphism, Genetic ,Mutation ,Neuroscience (all) ,Genetics ,Adaptor Proteins ,Joubert syndrome ,Joubert Syndrome Related Disorders ,AHI1 gene ,mutation ,Neurology ,Consanguinity ,Biology ,Genetic ,medicine ,Polymorphism ,Preschool ,Gene ,Allele frequency ,Signal Transducing ,Molecular ,medicine.disease ,Adaptor Proteins, Vesicular Transport ,Cerebellar vermis ,Neurology (clinical) - Abstract
Author(s): Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; Bertini, E; Boltshauser, E; Zaki, M S; Abdel-Aleem, A; Abdel-Salam, GMH; Bellacchlo, E; Battini, R; Cruse, R P; Dobyns, W B; Krishnamoorthy, K S; Lagier-Tourenne, C; Magee, A; Pascual-Castroviejo, I; Salpietro, C D; Sarco, D; Dallapiccola, B; Gleeson, J G | Abstract: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. Methods: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. Results: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. Interpretation AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.
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- 2006
22. Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome
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Valente, Em, Silhavy, Jl, Brancati, F., Barrano, G, Krishnaswami, Sr, Castori, M, Lancaster, Ma, Boltshauser, E, Boccone, L, AL-GAZALI, L, Fazzi, E, Signorini, S, Louie, Cm, Bellacchio, E, Bertini, E, DALLA PICCOLA, B, and Gleeson, Jg
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- 2006
23. AHI 1 gene mutations cause specific forms of Joubert sindrome related disorders
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Valente, Em, Brancati, F, Silhauy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshaueser, E, Abdel-Aleem, A, Abdel-Salam, Gm, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, Ks, Lager-Tourenne, G, Magee, A, Pascual-Castroviejo, I, Sampietro, Cd, Sarco, D, Dalla Piccola, B, and Gleeson JS and International JSRD Study Group
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- 2006
24. MAMEL (Methylmalonic Aciduria Mitochondrial Encephalopathy Leigh-Like).: A New Mitochondrial Encephalopathy?
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Deodato, F, DI ROSA, Gabriella, Rizzo, C, Valente, Em, Carrozzo, R, Bertini, E, Santorelli, F, Boenzi, S, and DIONISI VICI, C.
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- 2005
25. A novel family with an unusual early onset generalized dystonia
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Fabbrini, G, Brancati, F., Vacca, L, Valente, Em, Nemeth, A, Meesaq, A, Sykes, N, Dallapiccola, B, and Berardelli, A
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- 2005
26. Characterization and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
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Valente, Em, SALPIETRO DAMIANO, Carmelo, Brancati, F., Bertini, E., Galluccio, T., Tortorella, G., Briuglia, Silvana, and Dallapiccola, B.
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- 2003
27. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia
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Brancati, F., Valente, Em, Castori, M, Vanacore, N, Sessa, M, Galardi, G, Berardelli, A, Bentivoglio, Ar, Defazio, G, Girlanda, P, Abbruzzese, G, Albanese, A, Dallapiccola, B, and ITALIAN MOVEMENT DISORDER STUDY GROUP
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Adult ,Male ,medicine.medical_specialty ,Genotype ,Population ,Short Report ,Locus (genetics) ,Biology ,Polymerase Chain Reaction ,Pathogenesis ,Gene Frequency ,Dopamine ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Receptors, Dopamine D5 ,Cervical dystonia ,Allele ,education ,Torticollis ,Dystonia ,education.field_of_study ,Polymorphism, Genetic ,Receptors, Dopamine D1 ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,Settore MED/26 - NEUROLOGIA ,Endocrinology ,Italy ,Case-Control Studies ,Female ,Surgery ,malattia di Parkinson ,Neurology (clinical) ,Microsatellite Repeats ,medicine.drug - Abstract
Cervical dystonia (CD) is one of the most common forms of primary dystonia. The pathogenesis of the disease is still unknown, although evidence suggests a role for genetic factors. Recently, a polymorphism in the dopamine D5 receptor (DRD5) gene has been associated with the disease in a British population, suggesting that DRD5 is a susceptibility gene for CD. To confirm these data, we performed a case-control study of the microsatellite (CT/GT/GA)(n) at the DRD5 locus in 104 Italian CD patients and 104 healthy controls. The frequency of allele 4 was higher in the CD patients compared to the controls. This resulted in a twofold increased risk of developing the disease. These results provide further evidence of an association between DRD5 and cervical dystonia, supporting the involvement of the dopamine pathway in the pathogenesis of CD.
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- 2003
28. PARK6 is a common cause of familial parkinsonism
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Valente, Em, Brancati, F, Caputo, Viviana, Graham, Ea, Davis, Mb, Ferraris, A, Breteler, Mm, Gasser, T, Bonifati, V, Bentivoglio, Ar, De Michele, G, Dürr, A, Cortelli, P, Filla, A, Meco, G, Oostra, Ba, Brice, A, Albanese, A, Dallapiccola, B, Wood, Nw, European Consortium on Genetic Susceptibility in Parkinson's Disease, Epidemiology, Clinical Genetics, E. M., Valente, F., Brancati, V., Caputo, E. A., Graham, M. B., Davi, A., Ferrari, M. M., B, T., Gasser, V., Bonifati, A. R., Bentivoglio, DE MICHELE, Giuseppe, A., Dürr, P., Cortelli, Filla, Alessandro, G., Meco, B. A., Oostra, A., Brice, A., Albanese, B., Dallapiccola, N. W., Wood, and E. C., On
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Consanguineous family ,Genotype ,Genetic Linkage ,Ubiquitin-Protein Ligases ,epidemiology/genetics, Pedigree, Ubiquitin-Protein Ligases ,Locus (genetics) ,Dermatology ,Familial parkinsonism ,Juvenile parkinsonism ,Biology ,Chromosome ,Ligases ,Parkinsonian Disorders ,Genetic linkage ,medicine ,Humans ,genetics, Parkinsonian Disorder ,Early onset ,Dystonia ,Genetics ,epidemiology, Genetic Linkage, Genotype, Humans, Ligase ,Pair 1, Europe ,General Medicine ,medicine.disease ,Pedigree ,Europe ,Psychiatry and Mental health ,Chromosomes, Human, Pair 1 ,Neurology (clinical) ,Human - Abstract
The Parkin gene is responsible for about 50\% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20\% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.
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- 2002
29. P208 – 1790 EPNS SARA age validation trial: preliminary results
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Lawerman, TF, primary, Baxter, P, additional, Brandsma, R, additional, Brankovic-Sreckovic, V, additional, Calabro, GE, additional, Catsman-Berrevoets, CE, additional, Craiu, D, additional, de Coo, IFM, additional, Gburek-Augustat, J, additional, Kammoun, F, additional, Kennedy, C, additional, Lunsing, RJ, additional, Mancini, F, additional, Mirabelli-Badenier, M, additional, Nemeth, A, additional, Steinlin, M, additional, Synofzik, M, additional, Triki Chahnez, C, additional, Valente, EM, additional, and Sival, DA, additional
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- 2013
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30. Tectocerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum
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Poretti, A, primary, Rostásy, K, additional, Wei, XC, additional, Fauth, C, additional, Koch, J, additional, Hader, WJ, additional, Valente, EM, additional, Huisman, TAGM, additional, and Boltshauser, E, additional
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- 2013
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31. Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?
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Poretti, A, primary, Häusler, M, additional, van Moers, A, additional, Baumgartner, B, additional, Zerres, K, additional, Klein, A, additional, Aiello, C, additional, Zanni, G, additional, Santorelli, FM, additional, Huisman, TAGM, additional, Valente, EM, additional, Weis, J, additional, Bertini, E, additional, and Boltshauser, E, additional
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- 2013
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32. Joubert syndrome and related disorders: a paradigm to understand splitting and lumping in ciliopathies
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Valente, EM, primary
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- 2012
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33. The ciliary protein Meckelin/TMEM67 interacts with HDAC6: possible implications for primary cilia stability
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De Mori, R, primary, Illi, B, additional, Romani, S, additional, Valente, S, additional, Johnson, CA, additional, Mai, A, additional, and Valente, EM, additional
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- 2012
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34. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
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Romani, S, primary, Illi, B, additional, De Mori, R, additional, Gleeson, JG, additional, and Valente, EM, additional
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- 2012
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35. Failure of decussation of important pathways demonstrated by MR tractography in Joubert syndrome
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Poretti, A, primary, Boltshauser, E, additional, Valente, EM, additional, and Huisman, TA, additional
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- 2006
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36. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, and Hanna M
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- 2012
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37. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
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Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, and Lo Monaco M
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- 2011
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38. Mutation screening of the DYT6/THAP1 gene in Italy.
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Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, and Valente EM
- Abstract
Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD. (c) 2009 Movement Disorder Society. [ABSTRACT FROM AUTHOR]
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- 2009
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39. Computerized gait analysis of botulinum toxin treatment in children with cerebral palsy.
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Galli M, Cimolin V, Valente EM, Crivellini M, Ialongo T, and Albertini G
- Abstract
Purpose. Intramuscular botulinum toxin A (BTA) injection is a local reversible treatment with a wide range of therapeutic applications, including temporary reduction of spasticity. The aim of this work was a quantitative, computerized objective evaluation of BTA-induced improvement of the walking functional ability in a group of children with cerebral palsy (CP). Methods. Fifteen children with CP and 20 healthy children were evaluated. All patients were equinus walkers without fixed contractures of triceps surae muscles and they were evaluated before and after about 1.5 months from BTA injections into the calf muscles. The effectiveness of treatment was evaluated by 3D computerized gait analysis. Results. Data analysis revealed a significant improvement of equinus foot and ankle range of motion during gait after BTA injection. Positive effects were evident also at the knee joint as documented by the improvement of kinetics characteristics (moment and power). Conclusions. Computerized gait analysis is a valid method for quantification of BTA effect on walking in children with CP, allowing a detailed evaluation of improvement at each joint and a quantitative evaluation of treatment outcome. [ABSTRACT FROM AUTHOR]
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- 2007
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40. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration.
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Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A, DiGiorgio A, and Coubes P
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- 2005
41. Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
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Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, and Gleeson JG
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- 2005
42. The role of DYT1 in primary torsion dystonia in Europe.
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Valente, EM, Warner, TT, Jarman, PR, Mathen, D, Fletcher, NA, Marsden, CD, Bhatia, KP, and Wood, NW
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- 1998
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43. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
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Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B, Albanese, A, Valente, E M, Romito, L M, Bellacchio, E, Elia, A E, and Dallapiccola, B
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- 2005
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44. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
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Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, and Dallapiccola B
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- 2005
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45. Primary torsion dystonia: the search for genes is not over.
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Jarman PR, del Grosso N, Valente EM, Leube B, Cassetta E, Bentivoglio AR, Waddy HM, Uitti RJ, Maraganore DM, Albanese A, Frontali M, Auburger G, Bressman SB, Wood NW, Nygaard TG, Jarman, P R, del Grosso, N, Valente, E M, Leube, B, and Cassetta, E
- Abstract
A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD. [ABSTRACT FROM AUTHOR]
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- 1999
46. Spectrum of mutations in the gene for epsilon-sarcoglycan (SGCE) in myoclonus-dystonia syndrome (MDS, DYT11)
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Asmus, F., Alexander Zimprich, Tezenas, S., Bandmann, O., Kupsch, A., Kabus, C., Ziemann, U., Schoels, L., Deuschl, G., Valente, Em, Durr, A., Wood, N., Brice, A., and Gasser, T.
47. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
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Casali, C., Valente, Em, Bertini, E., Montagna, G., Criscuolo, C., Michele, G., Damiano, M., Pierallini, A., Brancati, F., Sarano, V., Rossi, A., Tessa, A., Cricchi, F., Muglia, M., Carella, M., Amabile, Ga, Nappi, G., Filla, A., Dallapiccola, B., and Filippo M Santorelli
48. 'Gluing' phenotypes together: The case of GLUT1.
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Valente EM and Albanese A
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- 2011
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49. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
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S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi, IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, and Attie-Bitach, T
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Liver Cirrhosis ,2716 Genetics (clinical) ,meckelin ,Ciliopathies ,Joubert syndrome ,Genotype ,congenital hepatic fibrosis ,coach syndrome ,mks3 ,meckel syndrome ,joubert syndrome ,tmem67 ,TMEM67 ,Meckel syndrome ,DNA Mutational Analysis ,610 Medicine & health ,Biology ,medicine.disease_cause ,MKS3 ,COACH syndrome ,Article ,NO ,1311 Genetics ,Nephronophthisis ,Pregnancy ,Prenatal Diagnosis ,Genetics ,medicine ,COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67 ,Missense mutation ,Humans ,Abnormalities, Multiple ,Genetics (clinical) ,Mutation ,Cilium ,Membrane Proteins ,Kidney Diseases, Cystic ,medicine.disease ,Phenotype ,10036 Medical Clinic ,Female - Abstract
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
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- 2010
50. GBA-Related Parkinson’s Disease:Dissection of Genotype–Phenotype Correlates in a LargeItalian Cohort
- Author
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Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M., Altavista, M. C., Amboni, M., Ardolino, G., Berardelli, A., Cogiamanian, F., Colosimo, C., Costanti, D., De Michele, G., Bonaventura, C. D., Di Lazzaro, G., Di Lazzaro, V., Emanuele Elia, A., Erro, R., Ferrazzano, G., Guerra, A., Ialongo, T., Malaguti, M. C., Melis, M., Moro, E., Oppo, V., Ottaviani, D., Peluso, S., Quadri, M. L., Romito, L. M., Sarchioto, M., Schirinzi, T., Sorbera, C., Stefani, A., Thomas, A., Valente, M. L., Volpe, G, ITA-GENE-PD Study, Group., Petrucci, S, Ginevrino, M, Trezzi, I, Monfrini, E, Ricciardi, L, Albanese, A, Avenali, M, Barone, P, Bentivoglio, Ar, Bonifati, V, Bove, F, Bonanni, L, Brusa, L, Cereda, C, Cossu, G, Criscuolo, C, Dati, G, De Rosa, A, Eleopra, R, Fabbrini, G, Fadda, L, Garbellini, M, Minafra, B, Onofrj, M, Pacchetti, C, Palmieri, I, Pellecchia, Mt, Petracca, M, Picillo, M, Pisani, A, Vallelunga, A, Zangaglia, R, Di Fonzo, A, Morgante, F, Valente, Em, Clinical Genetics, Erasmus MC other, and Radiology & Nuclear Medicine
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0301 basic medicine ,Oncology ,medicine.medical_specialty ,Parkinson's disease ,Genotype ,genotype–phenotype correlates ,Disease ,Settore MED/05 ,Genotype phenotype ,dementia ,GBA ,impulsive–compulsive behavior ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,Internal medicine ,medicine ,Dementia ,Humans ,Sanger sequencing ,business.industry ,Dissection ,Parkinson Disease ,medicine.disease ,Phenotype ,Settore MED/26 - NEUROLOGIA ,030104 developmental biology ,Glucosylceramidase ,Italy ,Mutation ,Neurology ,Cohort ,symbols ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
BACKGROUND Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. OBJECTIVES We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. METHODS Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. RESULTS Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. CONCLUSIONS GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society.
- Published
- 2020
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