Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. - Wikidata - awgldk - TriplyDB

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

http://www.wikidata.org/entity/Q35956314

about

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China Nonmotor and extracerebellar features in Machado-Joseph disease: a review.Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.Fasciculations in human hereditary disease.Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.Parkinson's disease associated with pure ATXN10 repeat expansion Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India.Diagnosis at a first glance? "Bulging eyes" as a clue for a more accurate diagnosis in spinocerebellar ataxias.Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias.Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.Vergence and Strabismus in Neurodegenerative Disorders.

P2860

Q36003053-1FD4325C-40D4-4F93-81C5-7A9327019F23 Q36380255-4298912B-98A6-46EC-8BFF-D640E3E55877 Q38115268-C9BF3B7F-DCAC-4B9C-88D2-118ECFA9A745 Q38167681-55FE521D-8B3F-4B4E-9889-7358226F2A9F Q38235160-31F2AD52-EDD7-4D7E-9163-1CDC6EDF3E7B Q38760864-D3A09BA1-2A87-49F2-B0A3-3C40B2D17D7F Q38841145-13F4DDEA-E54A-4CE3-8C07-E716CD3942BE Q38843338-46457156-2C32-45A7-BA07-A560D1038F41 Q38985406-032AF029-1DA4-4E8B-88A5-74B1EE2981C8 Q39123888-8F35F81F-7D85-41F0-BD66-3F564C5C3AE0 Q40232122-180A89B3-720F-4374-9214-CDF71295D552 Q41621382-432E68FE-7AFA-4980-B10E-936238862AEB Q41821994-3E1A155B-1674-4A1B-ADBD-6E540754807E Q45213307-70F3D18E-8BA2-48D3-B63A-76B31B8B78EF Q45343846-6680EAB3-3049-4EAA-952D-2AC774A35872 Q45893158-9A539EA2-2CA9-4A55-91A1-D2A780CC951E Q47112261-265BCE73-5661-41E0-B1A4-91D6EDB443FC Q50857368-94CB0C73-B394-4307-90BD-CD49C35DFC2D Q55093132-D05640DC-2302-4C3E-8E8F-93A4E0D30609

P2860

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

http://www.wikidata.org/entity/Q35956314

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

@ast

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

@en

type

label

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

@ast

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

@en

prefLabel

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

@ast

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

@en

P1433

Q35956314-7D9A04EB-411C-4891-B71E-DB245435EBED

P1476

Q35956314-97FFAB68-3C43-4D25-B018-22C569ECEEDA

P2093

Q35956314-2E1CF077-4CE3-49AB-8E4F-4ED560B9D092

Q35956314-4135664F-F54E-44A6-A8AD-3E1C9EAC2990

Q35956314-539022FF-DAA3-4320-B4D8-CEA93E4B1556

Q35956314-6C82AD3C-B903-4F37-B09D-B35783AA0979

Q35956314-C6A1C0E3-D3F1-48BA-ACA0-8A5D2A7E7CC9

Q35956314-DE08CD45-00F7-47D9-B367-D8C5DA7BAB1B

P2860

Q35956314-072C4087-589A-4F24-8142-6F6F20E1A97E

Q35956314-09F60D18-7577-4034-9F84-A473B9929D30

Q35956314-0D0349DB-21D0-44D2-8488-35D90BC7E2B9

Q35956314-0E93A7B4-9B32-4E67-9877-E946A5ECD386

Q35956314-223C99E3-616F-488C-8834-D152352C6334

Q35956314-28338A4A-AE6D-4830-B480-D0835B7739A0

Q35956314-314413F0-18B7-4A45-AB44-8CBE90CEA820

Q35956314-3F5EE618-B100-415F-BB38-4FD2CA8A8EA2

Q35956314-473E2250-69BE-4DD6-8009-D9218F26766C

Q35956314-558CE5F3-4F19-48D8-9C9E-BA9F4C812C21

P304

Q35956314-F9FE4102-43DA-4D1A-9C6A-8C34D7A78368

P31

Q35956314-F221AE55-CE70-418D-B138-16765335C596

P356

Q35956314-8BEF96D4-0CF1-43C6-AA15-00816070E71B

P433

Q35956314-3BCB34C8-DFB2-45B6-BDE8-EA1206A3245A

P478

Q35956314-E3DFC6F4-7269-47C6-BC71-396A29DD0BAD

P50

Q35956314-B9C4BE71-3562-4E43-A688-4BB6F38B1E0B

P577

Q35956314-932A67AB-6BD4-4893-A599-7EC8263FAC91

P5875

Q35956314-A340DF64-E60D-4BBC-BBBF-EE30A699B017

P698

Q35956314-256945FF-3BFB-438C-A2CA-F11D9FA098DA

P932

Q35956314-0419BB1F-8B3F-48CC-81ED-BCDC3D29B19A

P356

P1433

P1476

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

@en

P2093

Hélio A G Teive

http://www.w3.org/2001/XMLSchema#string

Lineu C Werneck

http://www.w3.org/2001/XMLSchema#string

Renato P Munhoz

http://www.w3.org/2001/XMLSchema#string

Salmo Raskin

http://www.w3.org/2001/XMLSchema#string

Tetsuo Ashizawa

http://www.w3.org/2001/XMLSchema#string

Walter O Arruda

http://www.w3.org/2001/XMLSchema#string

P2860

Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias.

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.

P304

443-449

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.6061/CLINICS/2012(05)07

http://www.w3.org/2001/XMLSchema#string

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

67

http://www.w3.org/2001/XMLSchema#string

P50

Iscia Lopes-Cendes

P577

2012-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

225185076

http://www.w3.org/2001/XMLSchema#string

P698

22666787

http://www.w3.org/2001/XMLSchema#string

P932

3351252

http://www.w3.org/2001/XMLSchema#string