| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Brandon Oubre, Faye Yang, Anna C Luddy, Rohin Manohar, Nancy N Soja, Christopher D Stephen, Jeremy D Schmahmann, Divya Kulkarni, Lawrence White, Siddharth Patel, Anoopum S Gupt. Eye Tracking during Passage Reading Supports Precise Oculomotor Assessment in Ataxias. medRxiv : the preprint server for health sciences. 2025-01-27. PMID:39867398. |
model scores were reliable (icc=0.96, p<0.001) and demonstrated convergent validity with brief ataxia rating scale total (r=0.82, p<0.001), oculomotor (r=0.52, p<0.001), and speech (r=0.73, p<0.001) scores, as well as patient surveys. |
2025-01-27 |
2025-01-29 |
human |
| Brandon Oubre, Faye Yang, Anna C Luddy, Rohin Manohar, Nancy N Soja, Christopher D Stephen, Jeremy D Schmahmann, Divya Kulkarni, Lawrence White, Siddharth Patel, Anoopum S Gupt. Eye Tracking during Passage Reading Supports Precise Oculomotor Assessment in Ataxias. medRxiv : the preprint server for health sciences. 2025-01-27. PMID:39867398. |
eye tracking during passage reading supports precise oculomotor assessment in ataxias. |
2025-01-27 |
2025-01-29 |
human |
| Brandon Oubre, Faye Yang, Anna C Luddy, Rohin Manohar, Nancy N Soja, Christopher D Stephen, Jeremy D Schmahmann, Divya Kulkarni, Lawrence White, Siddharth Patel, Anoopum S Gupt. Eye Tracking during Passage Reading Supports Precise Oculomotor Assessment in Ataxias. medRxiv : the preprint server for health sciences. 2025-01-27. PMID:39867398. |
the scores were also sensitive to disease progression (d=0.36, p=0.03), demonstrated strong separability between healthy controls and participants with ataxias (auc=0.89, p<0.001), and showed evidence of the ability to detect subclinical oculomotor patterns (auc=0.69, p=0.02). |
2025-01-27 |
2025-01-29 |
human |
| Zuriñe Ortiz de Zarate Caballero, Amagoia Elosegi Castellanos, Ainhoa García Ribes, María Jesús Martínez-González, Ana Felipe-Rucián, Gemma Olivé-Cirera, Thais Armangu. Facial Hypomimia, Oculomotor Paralysis, and Ataxia Associated With GAD65 and Glycine Receptor Antibodies in a Child. Neurology. vol 103. issue 11. 2024-11-12. PMID:39531605. |
facial hypomimia, oculomotor paralysis, and ataxia associated with gad65 and glycine receptor antibodies in a child. |
2024-11-12 |
2024-11-17 |
Not clear |
| Jacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, Carlo Casali, Francesca Cumbo, Adele D'Amico, Daniela Longo, Antonio Novelli, Gessica Vasco, Enrico Bertini, Francesco Nicit. De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation. Cerebellum (London, England). 2024-09-23. PMID:39312122. |
de novo grid2 variant as a cause of ataxia with oculomotor apraxia and alpha-fetoprotein elevation. |
2024-09-23 |
2024-09-26 |
human |
| Jacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, Carlo Casali, Francesca Cumbo, Adele D'Amico, Daniela Longo, Antonio Novelli, Gessica Vasco, Enrico Bertini, Francesco Nicit. De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation. Cerebellum (London, England). 2024-09-23. PMID:39312122. |
this additional patient increases the scarce literature and genotypic spectrum of the grid2-related ataxia and evidences a fairly homogeneous phenotype of ataxia with oculomotor abnormalities for the autosomal-dominant form. |
2024-09-23 |
2024-09-26 |
human |
| Federica Galota, Giulia Di Rauso, Francesca Sireci, Andrea Castellucci, Francesco Cavallieri, Edoardo Monfrini, Valentina Fioravanti, Isabella Campanini, Andrea Merlo, Manuela Napoli, Lorenzo Cavazzuti, Sara Grisanti, Silvia Ferrari, Alessio Di Fonzo, Franco Valzani. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-09-18. PMID:39294407. |
obsessive-compulsive disorder as a first manifestation of ataxia with oculomotor apraxia type 2 due to a novel mutation of setx gene. |
2024-09-18 |
2024-09-21 |
Not clear |
| Federica Galota, Giulia Di Rauso, Francesca Sireci, Andrea Castellucci, Francesco Cavallieri, Edoardo Monfrini, Valentina Fioravanti, Isabella Campanini, Andrea Merlo, Manuela Napoli, Lorenzo Cavazzuti, Sara Grisanti, Silvia Ferrari, Alessio Di Fonzo, Franco Valzani. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-09-18. PMID:39294407. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (afp) serum level. |
2024-09-18 |
2024-09-21 |
Not clear |
| S Sheetal, Reji Thomas, P Byju, Aswathy Sasidharan, Finu Mathew, M Madhusudana. A Cross-Sectional Study of Clinical Spectrum and Outcome of Pure Midbrain Strokes. Neurology India. vol 72. issue 4. 2024-08-31. PMID:39216034. |
pure mesencephalic infarcts are uncommon, the main clinical manifestations being oculomotor signs and ataxia. |
2024-08-31 |
2024-09-04 |
Not clear |
| Pablo Ros-Arlanzón, Blanca Serrano-Serrano, Carlos Aledo-Sala, Natasha Guevara-Dalrymple, Silvia Martí-Martíne. Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis. Movement disorders clinical practice. vol 11. issue 8. 2024-08-17. PMID:38817201. |
exploring the pathogenicity of setx i1942t variant in ataxia with oculomotor apraxia type 2 through segregation analysis. |
2024-08-17 |
2024-08-19 |
Not clear |
| Annapoorna Kannan, Shyni Gangadharan Leela, Dana Branzei, Laxman Gangwan. Role of senataxin in R-loop-mediated neurodegeneration. Brain communications. vol 6. issue 4. 2024-07-29. PMID:39070547. |
despite its ubiquitous expression, mutations in senataxin specifically affect neurons and result in distinct neurodegenerative diseases such as amyotrophic lateral sclerosis type 4 and ataxia with oculomotor apraxia type 2, which are attributed to the gain-of-function and the loss-of-function mutations in senataxin, respectively. |
2024-07-29 |
2024-08-02 |
Not clear |
| E Sohns, D J Szmulewicz, A A Tarnutze. Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements. Cerebellum (London, England). 2024-07-27. PMID:39066865. |
disease-specific oculomotor assessments play a crucial role in the early diagnosis of hereditary cerebellar ataxias. |
2024-07-27 |
2024-08-02 |
Not clear |
| E Sohns, D J Szmulewicz, A A Tarnutze. Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements. Cerebellum (London, England). 2024-07-27. PMID:39066865. |
whereas several studies have reported on quantitative oculomotor and vestibular measurements in friedreich's ataxia (frda), the value of specific oculomotor paradigms remains unclear. |
2024-07-27 |
2024-08-02 |
Not clear |
| Sara Satolli, Rosa De Micco, Daniele Galatolo, Alessandra Tessa, Mario Cirillo, Alessandro Tessitore, Filippo Maria Santorell. A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia. Movement disorders clinical practice. 2024-06-17. PMID:38881152. |
a novel compound heterozygous mutation in aprataxin causes slowly progressive ataxia without oculomotor apraxia. |
2024-06-17 |
2024-06-19 |
Not clear |
| G Clément, S Puisieux, D Pellerin, B Brais, C Bonnet, M Renau. Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia. Revue neurologique. 2024-04-12. PMID:38609751. |
the core phenotype of the disease consists of slowly progressive late-onset ataxia with cerebellar syndrome, oculomotor disorders including downbeat nystagmus, and episodic symptoms such as diplopia. |
2024-04-12 |
2024-04-15 |
Not clear |
| Alberto Imarisio, Andrea Pilotto, Alessandro Lupini, Giorgio Biasiotto, Isabella Zanella, Riccardo Currò, Elisa Vegezzi, Andrea Cortese, Ilaria Palmieri, Enza Maria Valente, Alessandro Padovan. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report. Parkinsonism & related disorders. vol 123. 2024-03-31. PMID:38555792. |
we describe here a 73-year-old patient presenting with atypical msa-p-like phenotype carrying a monoallelic p. w279x mutation in the aptx gene, which causes ataxia with oculomotor apraxia type 1 (aoa1) when in homozygous state. |
2024-03-31 |
2024-04-03 |
Not clear |
| Salah A Elmali. Electrophysiology of ataxia-telangiectasia-like disorder 1. Sudanese journal of paediatrics. vol 23. issue 2. 2024-02-21. PMID:38380400. |
ataxia-telangiectasia-like disorder-1 (atld1, omim # 604391) is a very rare clinical condition, characterized by slowly progressive ataxia with onset in childhood, associated with oculomotor apraxia and dysarthria. |
2024-02-21 |
2024-02-23 |
Not clear |
| Stefan Gafoor, Raheem Robertso. Silent Echoes: A Case Report of Wernicke Encephalopathy's Unheard Voice. Cureus. vol 16. issue 1. 2024-02-13. PMID:38347991. |
the diagnosis is mainly clinical and based on the presence of symptoms in the classic triad of mental status change, oculomotor abnormality, and ataxia. |
2024-02-13 |
2024-02-15 |
Not clear |
| David J Szmulewicz, Rocco Galli, Alexander A Tarnutze. Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders. Cerebellum (London, England). 2024-01-12. PMID:38214833. |
patient-related outcome measures for oculomotor symptoms in the cerebellar ataxias: insights from non-cerebellar disorders. |
2024-01-12 |
2024-01-14 |
human |
| Helena B Madsen, Louise I Pease, Rebekah-Louise Scanlan, Mansour Akbari, Lene J Rasmussen, Daryl P Shanley, Vilhelm A Boh. The DNA repair enzyme, aprataxin, plays a role in innate immune signaling. Frontiers in aging neuroscience. vol 15. 2024-01-01. PMID:38161589. |
ataxia with oculomotor apraxia type 1 (aoa1) is a progressive neurodegenerative disorder characterized by a gradual loss of coordination of hand movements, speech, and eye movements. |
2024-01-01 |
2024-01-05 |
Not clear |