Cargando…

SCA8 should not be tested in isolation for ataxia

Detalles Bibliográficos
Autores principales:	Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400807/ https://www.ncbi.nlm.nih.gov/pubmed/28451643 http://dx.doi.org/10.1212/NXG.0000000000000150

Ejemplares similares

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
por: Tonholo Silva, Thiago Y., et al.
Publicado: (2021)

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)
por: Bourque, Pierre R., et al.
Publicado: (2018)

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
por: Tojima, Maya, et al.
Publicado: (2018)

Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele
por: Kirby, Alana E., et al.
Publicado: (2021)

Ataxia and Diplopia: A New SCN8A-Related Phenotype
por: Laliberté, Alexandra, et al.
Publicado: (2023)

Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease
por: Burnyte, Birute, et al.
Publicado: (2023)

Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
por: Tozza, Stefano, et al.
Publicado: (2020)

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
por: Choubtum, Lulin, et al.
Publicado: (2015)

Paraneoplastic cerebellar ataxia with central hypoventilation
por: Kunchok, Amy, et al.
Publicado: (2016)

Episodic ataxia in CASPR2 autoimmunity
por: López Chiriboga, A. Sebastian, et al.
Publicado: (2018)

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
por: Novis, Luiz Eduardo, et al.
Publicado: (2023)

Expanding the global prevalence of spinocerebellar ataxia type 42
por: Ngo, Kathie, et al.
Publicado: (2018)

Spinocerebellar ataxia type 10 in Chinese Han
por: Wang, Kang, et al.
Publicado: (2015)

Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
por: Ng, Peng Soon, et al.
Publicado: (2019)

Expanding the ataxia with oculomotor apraxia type 4 phenotype
por: Paucar, Martin, et al.
Publicado: (2016)

White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia
por: Tiet, May Yung, et al.
Publicado: (2021)

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy
por: van der Put, Johanna, et al.
Publicado: (2022)

SPG7 mutations are a common cause of undiagnosed ataxia
por: Pfeffer, Gerald, et al.
Publicado: (2015)

Cerebellar ataxia as a presenting symptom in a patient with anti-NMDA receptor encephalitis
por: Poorthuis, Michiel H.F., et al.
Publicado: (2019)

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia
por: de Gusmao, Claudio M., et al.
Publicado: (2015)

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
por: Dad, Rubina, et al.
Publicado: (2017)

Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy
por: Takahashi, Yuji, et al.
Publicado: (2016)

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
por: Krenn, Martin, et al.
Publicado: (2019)

Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6
por: Odo, Takashi, et al.
Publicado: (2020)

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
por: Kocoglu, Cemile, et al.
Publicado: (2018)

Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
por: King-Robson, Josh, et al.
Publicado: (2021)

SEZ6L2 Antibody–Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy
por: Mehdiyeva, Ayla, et al.
Publicado: (2022)

Multigeneration family with dominant SPG30 hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

De novo REEP2 missense mutation in pure hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
por: Ng, Yi Shiau, et al.
Publicado: (2017)

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants
por: Rucheton, Benoit, et al.
Publicado: (2021)

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3
por: Ben-Shabat, Ilan, et al.
Publicado: (2023)

PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
por: Rezende Filho, Flávio M., et al.
Publicado: (2021)

Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
por: Haji, Shotaro, et al.
Publicado: (2023)

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
por: Paucar, Martin, et al.
Publicado: (2021)

Spinocerebellar ataxia type 31 (SCA31)
por: Ishikawa, Kinya
Publicado: (2022)

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
por: Palombo, Flavia, et al.
Publicado: (2022)

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
por: Roda, Ricardo H., et al.
Publicado: (2018)

Should interferons take front stage as an essential MS disease-modifying therapy in the era of coronavirus disease 2019?
por: Maguire, Cole, et al.
Publicado: (2020)

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
por: Borroni, Barbara, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_nqsifkai7vf3ng489sq1urhv51