MovDisordV3, PascalFrancis, Corpus, bibRecord, 001374

The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins

Identifieur interne : 001374 ( PascalFrancis/Corpus ); précédent : 001373; suivant : 001375

The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins

Auteurs : Renato P. Munhoz ; Yosuke Wakutani ; Connie Marras ; Helio A. Teive ; Salmo Raskin ; Lineu C. Werneck ; Danielle Moreno ; Christine Sato ; Anthony E. Lang ; Ekaterina Rogaeva

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0133678

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Mutation, Homme, Phénotype, Jumeau monozygote, Brésil.

English descriptors

KwdEn :
- Brazil, Human, Monozygotic twin, Mutation, Nervous system diseases, Parkinson disease, Phenotype.

Abstract

Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 MUNHOZ (Renato P.)`
A11	`02`	`1`		`@1 WAKUTANI (Yosuke)`
A11	`03`	`1`		`@1 MARRAS (Connie)`
A11	`04`	`1`		`@1 TEIVE (Helio A.)`
A11	`05`	`1`		`@1 RASKIN (Salmo)`
A11	`06`	`1`		`@1 WERNECK (Lineu C.)`
A11	`07`	`1`		`@1 MORENO (Danielle)`
A11	`08`	`1`		`@1 SATO (Christine)`
A11	`09`	`1`		`@1 LANG (Anthony E.)`
A11	`10`	`1`		`@1 ROGAEVA (Ekaterina)`
A14	`01`			`@1 Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná @2 Curitiba, PR @3 BRA @Z 1 aut. @Z 4 aut. @Z 6 aut.`
A14	`02`			`@1 Centre for Research in Neurodegenerative Diseases, University of Toronto @2 Toronto, Ontario @3 CAN @Z 2 aut. @Z 7 aut. @Z 8 aut. @Z 10 aut.`
A14	`03`			`@1 Movement Disorders Centre, Toronto Western Hospital, University of Toronto @2 Toronto, Ontario @3 CAN @Z 3 aut. @Z 9 aut.`
A14	`04`			`@1 Genetika Laboratory @2 Curitiba, PR @3 BRA @Z 5 aut.`
A14	`05`			`@1 Division of Neurology, Department of Medicine, University Health Network @2 Toronto, Ontario @3 CAN @Z 9 aut. @Z 10 aut.`
A20				`@1 290-294`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000175066510240`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
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C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Homme @5 10`
C03	`04`	`X`	`ENG`	`@0 Human @5 10`
C03	`04`	`X`	`SPA`	`@0 Hombre @5 10`
C03	`05`	`X`	`FRE`	`@0 Phénotype @5 11`
C03	`05`	`X`	`ENG`	`@0 Phenotype @5 11`
C03	`05`	`X`	`SPA`	`@0 Fenotipo @5 11`
C03	`06`	`X`	`FRE`	`@0 Jumeau monozygote @5 12`
C03	`06`	`X`	`ENG`	`@0 Monozygotic twin @5 12`
C03	`06`	`X`	`SPA`	`@0 Gemelo monozigótico @5 12`
C03	`07`	`X`	`FRE`	`@0 Brésil @2 NG @5 13`
C03	`07`	`X`	`ENG`	`@0 Brazil @2 NG @5 13`
C03	`07`	`X`	`SPA`	`@0 Brasil @2 NG @5 13`
C07	`01`	`X`	`FRE`	`@0 Amérique du Sud @2 NG`
C07	`01`	`X`	`ENG`	`@0 South America @2 NG`
C07	`01`	`X`	`SPA`	`@0 America del sur @2 NG`
C07	`02`	`X`	`FRE`	`@0 Amérique @2 NG`
C07	`02`	`X`	`ENG`	`@0 America @2 NG`
C07	`02`	`X`	`SPA`	`@0 America @2 NG`
C07	`03`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`03`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`04`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
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C07	`04`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
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C07	`05`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`05`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 077`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 08-0133678 INIST
ET :	The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins
AU :	MUNHOZ (Renato P.); WAKUTANI (Yosuke); MARRAS (Connie); TEIVE (Helio A.); RASKIN (Salmo); WERNECK (Lineu C.); MORENO (Danielle); SATO (Christine); LANG (Anthony E.); ROGAEVA (Ekaterina)
AF :	Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná/Curitiba, PR/Brésil (1 aut., 4 aut., 6 aut.); Centre for Research in Neurodegenerative Diseases, University of Toronto/Toronto, Ontario/Canada (2 aut., 7 aut., 8 aut., 10 aut.); Movement Disorders Centre, Toronto Western Hospital, University of Toronto/Toronto, Ontario/Canada (3 aut., 9 aut.); Genetika Laboratory/Curitiba, PR/Brésil (5 aut.); Division of Neurology, Department of Medicine, University Health Network/Toronto, Ontario/Canada (9 aut., 10 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 2; Pp. 290-294; Bibl. 18 ref.
LA :	Anglais
EA :	Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Mutation; Homme; Phénotype; Jumeau monozygote; Brésil
FG :	Amérique du Sud; Amérique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Mutation; Human; Phenotype; Monozygotic twin; Brazil
EG :	South America; America; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Mutación; Hombre; Fenotipo; Gemelo monozigótico; Brasil
LO :	INIST-20953.354000175066510240
ID :	08-0133678

Links to Exploration step

Pascal:08-0133678

Le document en format XML

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<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
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<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins</title>
<author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. Munhoz</name>
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<s2>Curitiba, PR</s2>
<s3>BRA</s3>
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<author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name>
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<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
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<author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
<affiliation><inist:fA14 i1="03"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
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<author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A." last="Teive">Helio A. Teive</name>
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<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
<affiliation><inist:fA14 i1="04"><s1>Genetika Laboratory</s1>
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<author><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C." last="Werneck">Lineu C. Werneck</name>
<affiliation><inist:fA14 i1="01"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná</s1>
<s2>Curitiba, PR</s2>
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<author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
<affiliation><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
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<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
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</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation><inist:fA14 i1="03"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Division of Neurology, Department of Medicine, University Health Network</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<affiliation><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Division of Neurology, Department of Medicine, University Health Network</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
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</analytic>
<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brazil</term>
<term>Human</term>
<term>Monozygotic twin</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
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<front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.</div>
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<sZ>7 aut.</sZ>
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<sZ>9 aut.</sZ>
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<sZ>9 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.</s0>
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<s5>01</s5>
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<ET>The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins</ET>
<AU>MUNHOZ (Renato P.); WAKUTANI (Yosuke); MARRAS (Connie); TEIVE (Helio A.); RASKIN (Salmo); WERNECK (Lineu C.); MORENO (Danielle); SATO (Christine); LANG (Anthony E.); ROGAEVA (Ekaterina)</AU>
<AF>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná/Curitiba, PR/Brésil (1 aut., 4 aut., 6 aut.); Centre for Research in Neurodegenerative Diseases, University of Toronto/Toronto, Ontario/Canada (2 aut., 7 aut., 8 aut., 10 aut.); Movement Disorders Centre, Toronto Western Hospital, University of Toronto/Toronto, Ontario/Canada (3 aut., 9 aut.); Genetika Laboratory/Curitiba, PR/Brésil (5 aut.); Division of Neurology, Department of Medicine, University Health Network/Toronto, Ontario/Canada (9 aut., 10 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 2; Pp. 290-294; Bibl. 18 ref.</SO>
<LA>Anglais</LA>
<EA>Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.</EA>
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<FG>Amérique du Sud; Amérique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Mutation; Human; Phenotype; Monozygotic twin; Brazil</ED>
<EG>South America; America; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Mutación; Hombre; Fenotipo; Gemelo monozigótico; Brasil</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins

The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins

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