Cargando…

Expanding the Spectrum of Polymerase Gamma-Related Ataxia

Detalles Bibliográficos
Autores principales:	Gupta, Harsh Vardhan, Karlowski, Kayla, Burka, Tekalign
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2019
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839298/ https://www.ncbi.nlm.nih.gov/pubmed/31736594 http://dx.doi.org/10.4103/aian.AIAN_3_19

Ejemplares similares

Bilateral INO in PSP
por: Gupta, Harsh V., et al.
Publicado: (2020)

Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant
por: Gowda, Vykuntaraju K., et al.
Publicado: (2021)

Vitamin E Deficiency: An Under-Recognized Cause of Dystonia and Ataxia Syndrome
por: Gupta, Harsh V., et al.
Publicado: (2020)

Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders
por: Vaz, Frédéric M, et al.
Publicado: (2020)

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
por: Kaiyrzhanov, Rauan, et al.
Publicado: (2021)

Lichtenstein–Knorr Syndrome: A Rare Case of Ataxia with Sensorineural Hearing Loss
por: Hesarur, Nagabushan, et al.
Publicado: (2022)

Expanding the clinical spectrum of MTTF mutations
por: Barcia, Giulia, et al.
Publicado: (2019)

Expanding the Phenotypic Spectrum of Olmsted Syndrome
por: Wilson, Neil J, et al.
Publicado: (2015)

Motor neuron involvement expands the neuropathological phenotype of late‐onset ataxia in RFC1 mutation (CANVAS)
por: Reyes‐Leiva, David, et al.
Publicado: (2022)

Ataxia as Forme Fruste of Opsoclonus Myoclonus Ataxia Syndrome
por: Dhawan, Sumeet R., et al.
Publicado: (2020)

Expanded-spectrum β-Lactamase and Plasmid-mediated Quinolone Resistance
por: Poirel, Laurent, et al.
Publicado: (2007)

L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum
por: Kamath, Sneha Dayanand, et al.
Publicado: (2023)

Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum
por: Gurram, Sandeep, et al.
Publicado: (2023)

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
por: Perrier, Stefanie, et al.
Publicado: (2020)

Tremor and ataxia in COVID-19()
por: Diezma-Martín, A.M., et al.
Publicado: (2020)

CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
por: Panda, Prateek K., et al.
Publicado: (2021)

Virtues of polymerase chain reaction in ophthalmology
por: Gupta, Pulkit, et al.
Publicado: (2013)

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias
por: Fournier, Clémence, et al.
Publicado: (2018)

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
por: Ritelli, Marco, et al.
Publicado: (2017)

High-grade childhood intra-parenchymal brain tumor clustering with ATRT and expanding the cancer spectrum related to inherited SMARCE1 truncating variations
por: Forest, Fabien, et al.
Publicado: (2022)

Upbeat Nystagmus in Late Onset Cerebellar Ataxia: Think of Anti-Glutamate Decarboxylase 65 Antibody-Associated Cerebellar Ataxia
por: Mahale, Rohan R., et al.
Publicado: (2021)

Do it yourself non-contact eyelid eversion: I-Verter
por: Tagare, Shivraj, et al.
Publicado: (2021)

Anti-metabotropic-glutamate-receptor 2-related encephalitis with cerebellar ataxia: a case description
por: Li, Dezheng, et al.
Publicado: (2023)

Reversible Cerebellar Ataxia Secondary to Carcinoid Tumor
por: Vishnu, Venugopalan Y, et al.
Publicado: (2016)

Friedreich Ataxia: Clinical Feature and Electrophysiological Symptoms
por: Oguri, Masayoshi
Publicado: (2017)

Parainfectious Ocular Flutter and Truncal Ataxia and Dengue
por: Wiwanitkit, Viroj
Publicado: (2017)

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy
por: Cornelius, Leema P., et al.
Publicado: (2020)

Vertebrobasilar Insufficiency Presenting as Orthostatic Cerebellar Ataxia
por: Kim, Geun Soo, et al.
Publicado: (2021)

Muscle Cramps Profile among Spinocerebellar Ataxias
por: Franklin, Gustavo Leite, et al.
Publicado: (2022)

Left-Hand Motor Stereotypy in Vitamin B12 Deficiency: Expanding the Spectrum of Infantile Tremor Syndrome
por: Karanvir,, et al.
Publicado: (2020)

Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
por: Rossi, Sabrina, et al.
Publicado: (2021)

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia
por: Mohamed Ibrahim, Norlinah, et al.
Publicado: (2020)

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?
por: d'Almeida, A K, et al.
Publicado: (2005)

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment
por: Bettencourt, Conceição, et al.
Publicado: (2013)

Orbital SOX10-mutant schwannoma with plexiform growth: Expanding the histopathological spectrum of a new molecular group
por: Wali, Ansar A, et al.
Publicado: (2023)

Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
por: Jeong, Heejeong, et al.
Publicado: (2014)

A case of cerebellar ataxia associated with VZV infection
por: Matsuyama, Hirofumi, et al.
Publicado: (2018)

The Rise of Cerebellar Ataxia in South Korea: 2002–2016
por: Park, YoonAh, et al.
Publicado: (2020)

Efavirenz-Induced Delayed Onset Cerebellar Ataxia and Encephalopathy
por: Sarma, GRK, et al.
Publicado: (2022)

Spinocerebellar Ataxia 28 Presenting as Predominantly Generalized Dystonia
por: Raj, Jidhin, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tdtganqa3p6oa6qd8s6jhvp8ad