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Barros, J., Damásio, J., Tuna, A., Alves, I., et al. (2013). Cerebellar ataxia, hemiplegic migraine, and related phenotypes due ... Vale, J., Bugalho, P., Silveira, I., Sequeiros, J., et al. (2010). Autosomal dominant cerebellar ataxia: Frequency analysis and ... Spears, M. D., Melton, S., Mao, Q., Payne, D., et al. (2010). Ataxia and progressive encephalopathy in a 4-year-old girl. ... Saute, J. A. M., Donis, K. C., Serrano-Munuera, C., Genis, D., et al. (2012). Ataxia rating scales-psychometric profiles, ...
ClC-2 | ClC family | IUPHAR/BPS Guide to PHARMACOLOGY
A Single Genetic Test Can Accurately Diagnose 25 Rare Diseases Faster Than Ever : ScienceAlert
John was ultimately diagnosed with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, or CANVAS for short. This ... hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease, and more," says genomicist Ira ...
RePub, Erasmus University Repository: Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without...
Ataxia-telangiectasia, ATM, Cerebellar atrophy, DNA damage response, Double-strand breaks, Kinase-dead ... The genome instability syndrome, ataxia-telangiectasia (A-T) is caused by null mutations in the ATM gene, that lead to complete ... The major clinical feature of A-T is cerebellar atrophy, characterized by relentless loss of Purkinje and granule cells. In Atm ... However, both strains exhibited normal life span and displayed no gross cerebellar histological abnormalities or significant ...
Frontiers | Age and Gender Differences in Cardiovascular Autonomic Failure in the Transgenic PLP-syn Mouse, a Model of Multiple...
... cerebellar ataxia and autonomic dysfunction (1). Cardiovascular autonomic failure (AF) is one of the main features which ... Spectral analysis of heart rate variability in multiple system atrophy and unexplained sporadic ataxia. J Neurol. (2004) 251: ...
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Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency. Proc Natl Acad Sci USA 101:9474 ... cerebellar Purkinje cells from the BKα−/− mice show reduced afterhyperpolarization and decreased spike rates (Sausbier et al., ...
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Genes search | AnalogYeast
Autosomal Recessive Cerebellar Ataxia,Ataxia-Telangiectasia. 5luq_b P78527 ENSG00000253729 PRKDC 100.00 1.30E-68 1.30E-72 ... Autosomal Recessive Cerebellar Ataxia,Hereditary Ataxia,Lymphoma,Cataract 38,Apraxia,Nijmegen Breakage Syndrome,Leukemia, ... Autosomal Recessive Cerebellar Ataxia,Nijmegen Breakage Syndrome,Leukemia, Chronic Lymphocytic,Ceroid Lipofuscinosis, Neuronal ... Chronic Lymphocytic,Li-Fraumeni Syndrome,Ataxia-Telangiectasia,Myeloma, Multiple,Medulloblastoma,Ataxia, Early-Onset, With ...
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Tysabri, Tyruko (natalizumab) dosing, indications, interactions, adverse effects, and more
JCV GCN can cause cerebellar dysfunction (eg, ataxia, incoordination, apraxia, visual disorders), and neuroimaging can show ... cerebellar atrophy. *For diagnosis of JCV GCN, an evaluation that includes a gadolinium-enhanced MRI scan of the brain and, ...
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12.Lechtenberg R. Ataxia and other cerebellar syndromes. In: Parkinsons Disease and Movement Disorders. 2nd Edition, J ... C. FRIEDREICHs ATAXIA (FA) (N=7). A 21 year old female with FA was referred for treatment with NAC. FRESA analysis indicated ... D. ATAXIA TELANGIECTASIA (AT) (N=3). Three siblings aged 7, 11, and 13 with AT confirmed by chromosomal analysis and lymphocyte ... A. HEREDITARY SPINOCEREBELLAR ATAXIA (HSCA) (N=18). Eighteen patients with HSCA have been treated with NAC. Five siblings (from ...
urofacial syndrome - Ontology Browser - Rat Genome Database
cerebellar ataxia, mental retardation and dysequlibrium syndrome + cerebellar atrophy, visual impairment, and psychomotor ... cerebellar hyplasia/atrophy, epilepsy, and global developmental delay Cerebellar Vermis Aplasia with Associated Features ... HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL ... infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile Hypotonia with Psychomotor ...
SSA - POMS: DI 28040.130 - Development Guidelines for Medical Improvement Not Expected (MINE) or MINE-Equivalent Impairments -...
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Cerebellar ataxia. It is unclear if oral ashwagandha is beneficial for improving balance in patients with cerebellar ataxia. ... Cases of ataxia and tremors have been reported in patients taking single doses of kava powder 205 grams (11373). ... in combination with Ayurvedic therapy for one month showed improvement in balance indices in subjects with cerebellar ataxia ... taurine has been reported to cause drowsiness and ataxia in epileptic children (77241). ...
Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus - Fingerprint - Discovery - the University of...
Spectrum of common and rare small molecule inborn errors of metabolism diagnosed in a tertiary care centre.
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families ... Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol ... Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children. J Inherit Metab Dis 2021; 45(2): 366-36 ... has described phenotypes in this disease [19]. This patient had global developmental delay with ataxia and micropenis requiring ...
Arthur W. Toga, PhD | Keck School of Medicine of USC
Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from ... Pontine and cerebellar atrophy correlate with clinical disability in SCA2 Neurology. 2006 Feb 14; 66(3):424-6. . View in PubMed ... Cerebellar vermis lobules VIII-X in autism Prog Neuropsychopharmacol Biol Psychiatry. 1999 May; 23(4):625-33. . View in PubMed ... Cerebellar cortical atrophy in experimental autoimmune encephalomyelitis Neuroimage. 2006 Sep; 32(3):1016-23. . View in PubMed ...
Richard J. Reimer, MD's Profile | Stanford Profiles
... cerebellar ataxia and muscular hypotonia. Central hypomyelination with cerebellar atrophy and thinning of the corpus callosum ... ataxia and infantile hypomyelination. There is no approved therapy for FSASD. We initiated a multidisciplinary collaborative ...
Alexandra Nelson | UCSF Profiles
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2): ... Expanding the global prevalence of spinocerebellar ataxia type 42. Neurol Genet. 2018 Jun; 4(3):e232. Ngo K, Aker M, Petty LE, ... Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature. Neurology. 2016 06 07; 86(23):e239-41. ... The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum. 2023 Oct; 22( ...
Ataxia in Dogs and Cats - Veterinary Partner - VIN
Ataxia is a symptom caused by some type of central nervous system problem in which the brain cannot correctly tell the body ... Common causes of cerebellar ataxia in pets are congenital defects and inflammatory diseases. Other causes include degenerative ... Three types of ataxia can be seen in dogs and cats, depending on whether the inner ear, brain, and/or spine is involved: * ... Pets with vestibular ataxia may have a head tilt, walk like they are going in a circle rather than straight ahead, and may have ...