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1. The cerebellum
The cerebellum, ISSN 1473-4222, 2002
Cerebellum | Ataxia
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2. Full Text The A‐T gene hunt
by Schnapp, Esther and Breithaupt, Holger
EMBO reports, ISSN 1469-221X, 09/2019, Volume 20, Issue 9, p. n/a
An interview with Yossi Shiloh about the hunt for the gene that causes ataxia‐telangiectasia, its clinical implications and about science in Israel. 
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3. Full Text S69. Peripheral nerve ultrasound in Friedreich's ataxia
by Mulroy, Eoin and Pelosi, Luciana and Leadbetter, Ruth and Joshi, Purwa and Rodrigues, Miriam and Mossman, Stuart and Kilfoyle, Dean and Roxburgh, Richard
Clinical Neurophysiology, ISSN 1388-2457, 05/2018, Volume 129, p. e167
The nerves of the patients with FRDA were significantly larger than healthy controls' at all upper limb sites (p<0.05) but not significantly different in the... 
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4. Full Text PO095 Utility of ataxia gene panel testing in irish inherited ataxia cases
by Bogdanova-Mihaylova, Petya and Walsh, Richard A
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A36 - A37
Inherited ataxias are heterogeneous neurodegenerative disorders in which diagnostic evaluation is often challenging. The success in obtaining a diagnosis... 
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5. Full Text PO231 A case of superficial siderosis mimicking myasthenia gravis
by Matthews, Rachael and Mirza, Farhat and Ramdass, Ranjit and Mohanraj, Rajiv
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A73 - A73
IntroductionSuperficial siderosis of the central nervous system (SSCNS) is caused by chronic subarachnoid haemorrhage. The clinical syndrome typically consists... 
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6. Full Text PO091 Breathing difficulty in adult onset alexander's disease
by John McAuley and Sanjiv Chawda
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, p. A35
Sleep apnoea and respiratory difficulties are reported in adult onset Alexander's disease (AOAD), an autosomal dominant leukodystrophy that presents mainly... 
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7. Full Text Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Nature Genetics, ISSN 1061-4036, 05/2019, Volume 51, Issue 5, pp. 920 - 920
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8. Full Text Gluten ataxia in perspective: Epidemiology, genetic susceptibility and clinical characteristics
by Hadjivassiliou, Marios and Grünewald, Richard and Sharrack, Basil and Sanders, David and Lobo, Alan and Williamson, Clare and Woodroofe, Nicola and Wood, Nicholas and Davies-Jones, Aelwyn
Brain, ISSN 0006-8950, 03/2003, Volume 126, Issue 3, pp. 685 - 691
We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may... 
Gluten sensitivity | Gluten ataxia | Prevalence | Coeliac disease | gluten ataxia | PATHOGENESIS | prevalence | coeliac disease | DIAGNOSIS | gluten sensitivity | SENSITIVITY | IDIOPATHIC CEREBELLAR-ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | CELIAC-DISEASE | Friedreich Ataxia - pathology | Humans | Middle Aged | Gait Ataxia - immunology | Male | Case-Control Studies | Cerebellar Ataxia - immunology | HLA-DQ Antigens - analysis | Celiac Disease - immunology | Gait Ataxia - complications | Antibodies - analysis | Aged, 80 and over | Celiac Disease - complications | Adult | Female | Friedreich Ataxia - complications | Ataxia - pathology | Ataxia - immunology | Genetic Predisposition to Disease | Gliadin - immunology | Cerebellar Ataxia - pathology | Cerebellum - pathology | Celiac Disease - pathology | Magnetic Resonance Imaging | Cerebellar Ataxia - complications | Friedreich Ataxia - immunology | Gait Ataxia - pathology | Adolescent | Aged | Ataxia - complications | Index Medicus | Abridged Index Medicus
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9. Full Text PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
by Synofzik, Matthis and Gonzalez, Michael A and Lourenco, Charles Marques and Coutelier, Marie and Haack, Tobias B and Rebelo, Adriana and Hannequin, Didier and Strom, Tim M and Prokisch, Holger and Kernstock, Christoph and Durr, Alexandra and Schöls, Ludger and Lima-Martínez, Marcos M and Farooq, Amjad and Schüle, Rebecca and Stevanin, Giovanni and Marques, Wilson and Züchner, Stephan
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Boucher-Neuhauser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy... 
retinal degeneration | genetics | hypogonadism | ataxia | hereditary spastic paraplegia | spastic ataxia | early onset ataxia | recessive ataxia | spasticity | LIPID ACYL HYDROLASE | FORM | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | NEUROPATHY TARGET ESTERASE | FRAMEWORK | RECESSIVE CEREBELLAR ATAXIAS | DNA-SEQUENCING DATA | GENOME ANALYSIS | HYPOGONADOTROPIC HYPOGONADISM | Spastic Paraplegia, Hereditary - genetics | Heredodegenerative Disorders, Nervous System - genetics | Humans | Middle Aged | Ataxia - etiology | Male | Phospholipases - genetics | Cerebellar Ataxia - physiopathology | Mutation - physiology | Adult | Female | Hypogonadism - physiopathology | Ataxia - genetics | Spinocerebellar Ataxias - genetics | Gonadotropin-Releasing Hormone - genetics | Models, Molecular | Spinocerebellar Ataxias - physiopathology | Heredodegenerative Disorders, Nervous System - physiopathology | Mutation - genetics | Retinal Dystrophies - physiopathology | DNA - genetics | Hypogonadism - genetics | Exome - genetics | Cerebellar Ataxia - genetics | Family | Gonadotropin-Releasing Hormone - deficiency | Retinal Dystrophies - genetics | Index Medicus | Abridged Index Medicus | Original
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10. Full Text Effective Intervention Using Active Vision Indicator to Improve Upper-limb Ataxia after Cerebellar Infarction: A Case Study
by Yoichi KAIZU and Kazuhiro MIYATA
Rigaku Ryoho Kagaku, ISSN 1341-1667, 01/2019, Volume 34, Issue 1, p. 149
[Purpose] This paper reports the outcomes of intervention using the training device Active Vision Indicator (AVI) to improve upper-limb ataxia after cerebellar... 
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11. Full Text Randomized, double‐blind, placebo‐controlled study of interferon‐γ 1b in Friedreich Ataxia
by Lynch, David R and Hauser, Lauren and McCormick, Ashley and Wells, McKenzie and Dong, Yi Na and McCormack, Shana and Schadt, Kim and Perlman, Susan and Subramony, Sub H and Mathews, Katherine D and Brocht, Alicia and Ball, Julie and Perdok, Renee and Grahn, Amy and Vescio, Tom and Sherman, Jeffrey W and Farmer, Jennifer M
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 03/2019, Volume 6, Issue 3, pp. 546 - 553
In vitro, in vivo, and open-label studies suggest that interferon gamma (IFN- 1b) may improve clinical features in Friedreich Ataxia through an increase in... 
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12. Full Text Novel pathogenic COX 20 variants causing dysarthria, ataxia, and sensory neuropathy
by Maria G. Otero and Emmanuelle Tiongson and Frank Diaz and Katrina Haude and Karin Panzer and Ashley Collier and Jaemin Kim and David Adams and Cynthia J. Tifft and Hong Cui and Francisca Millian Zamora and Margaret G. Au and John M. Graham Jr and David J. Buckley and Richard Lewis and Camilo Toro and Renkui Bai and Lesley Turner and Katherine D. Mathews and William Gahl and Tyler Mark Pierson
Annals of Clinical and Translational Neurology, 01/2019, Volume 6, Issue 1, pp. 154 - 160
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously... 
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13. Full Text Fifteen-minute consultation: the child with acute ataxia.(Best Practice)
by Setty, Gururaj and Prasad, Manish and Ong, Min Tsui and Whitehouse, William P
Archives of Disease in Childhood. Fetal and Neonatal Edition, ISSN 1359-2998, 12/2013, Volume 98, Issue 12, p. S217
Ataxia
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14. Full Text Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
by Németh, Andrea H and Kwasniewska, Alexandra C and Lise, Stefano and Parolin Schnekenberg, Ricardo and Becker, Esther B. E and Bera, Katarzyna D and Shanks, Morag E and Gregory, Lorna and Buck, David and Zameel Cader, M and Talbot, Kevin and de Silva, Rajith and Fletcher, Nicholas and Hastings, Rob and Jayawant, Sandeep and Morrison, Patrick J and Worth, Paul and Taylor, Malcolm and Tolmie, John and O’Regan, Mary and Valentine, Ruth and Packham, Emily and Evans, Julie and Seller, Anneke and Ragoussis, Jiannis and UK Ataxia Consortium
Brain, ISSN 0006-8950, 10/2013, Volume 136, Issue 10, pp. 3106 - 3118
Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients... 
autosomal recessive cerebellar ataxia | diagnosis | genetics | ataxia | autosomal dominant cerebellar ataxia | RECESSIVE SPINOCEREBELLAR ATAXIA | CONGENITAL CEREBELLAR-ATAXIA | ADULT-ONSET | BRAIN-STEM | NEUROSCIENCES | CLINICAL NEUROLOGY | PKC-GAMMA | HEARING-LOSS | SPASTIC ATAXIA | GENE | MUTATIONS | CATHEPSIN-D DEFICIENCY | Genetic Predisposition to Disease | Molecular Diagnostic Techniques | Genes, Recessive - genetics | Humans | Age of Onset | Ataxia - genetics | High-Throughput Nucleotide Sequencing - methods | Mutation - genetics | Ataxia - diagnosis | Genetic Testing - methods | Index Medicus | Abridged Index Medicus | Adolescence | Original
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15. Full Text Spontaneous pneumothorax in ataxia telangectasia
by Sudheer Chakravarthi and Manoj Goyal
The Indian Journal of Medical Research, ISSN 0971-5916, 02/2014, Volume 139, Issue 2, pp. 321 - 322
Ataxia
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16. Full Text Spontaneous spinal epidural haematoma mimicking meningitis in a 2-year-old childaa case report and literature review
by Jumani, D and Littlewood, R and Iyer, A and Fellows, G and Healey, A and Abernethy, L and Spinty, S and Sarginson, R and Pettorini, B
Child's Nervous System, ISSN 0256-7040, 10/2013, Volume 29, Issue 10, pp. 1795 - 1798
We report the case of a 2-year-old boy with suspected meningitis who presented with acute onset neck pain and stiffness associated with right-sided weakness... 
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17. The hereditary ataxias and related disorders
by Harding, A. E
1984, Clinical neurology and neurosurgery monographs, ISBN 9780443025990, Volume 6, 266
Friedreich's ataxia | Ataxia | Familial and genetic | Paraplegia | Cerebellar ataxia
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18. Full Text A putative “hepitype” in the ATM gene associated with chronic lymphocytic leukemia risk
by Martín‐Guerrero, Idoia and Enjuanes, Anna and Richter, Julia and Ammerpohl, Ole and Colomer, Dolors and Ardanaz, Maite and Marco, Fernando and Salas, Antonio and Campo, Elias and Siebert, Reiner and García‐Orad, Africa
Genes, Chromosomes and Cancer, ISSN 1045-2257, 11/2011, Volume 50, Issue 11, pp. 887 - 895
Chronic lymphocytic leukemia (CLL) cells are characterized by several chromosomal lesions. Some of these aberrations imply chromosome breaks as a result of... 
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19. Full Text Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
by Costantini, Antonio and Laureti, Tiziana and Pala, Maria Immacolata and Colangeli, Marco and Cavalieri, Simona and Pozzi, Elisa and Brusco, Alfredo and Salvarani, Sandro and Serrati, Carlo and Fancellu, Roberto
Journal of Neurology, ISSN 0340-5354, 11/2016, Volume 263, Issue 11, pp. 2170 - 2178
Thiamine (vitamin B1) is a cofactor of fundamental enzymes of cell energetic metabolism; its deficiency causes disorders affecting both the peripheral and... 
Friedreich ataxia | Triplet expansion diseases | Spinocerebellar ataxia | Thiamine | DEGENERATIVE ATAXIAS | PHOSPHATE-ESTERS | CEREBROSPINAL-FLUID | CLINICAL NEUROLOGY | LIPOAMIDE DEHYDROGENASE | SPINOCEREBELLAR ATAXIAS | CEREBELLAR-ATAXIA | GENE-EXPRESSION | TRIPLE THERAPY | OPEN-LABEL TRIAL | PLACEBO-CONTROLLED TRIAL | Paired Box Transcription Factors - genetics | Echocardiography | Friedreich Ataxia - drug therapy | Gene Expression - drug effects | Vitamin B Complex - therapeutic use | Humans | Middle Aged | Thiamine - therapeutic use | Male | Friedreich Ataxia - genetics | Neurologic Examination | Analysis of Variance | Time Factors | Adult | Female | Longitudinal Studies | RNA, Messenger | Paired Box Transcription Factors - metabolism | Friedreich's ataxia | Vitamin B1 | Complications and side effects | Patient outcomes | Dosage and administration | Research | Drug therapy | Index Medicus
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20. Full Text CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
by Türkmen, Seval and Guo, Gao and Garshasbi, Masoud and Hoffmann, Katrin and Alshalah, Amjad J and Mischung, Claudia and Kuss, Andreas and Humphrey, Nicholas and Mundlos, Stefan and Robinson, Peter N
PLoS Genetics, ISSN 1553-7390, 05/2009, Volume 5, Issue 5, pp. e1000487 - e1000487
We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait.... 
ANHYDRASE-RELATED PROTEIN | LINKAGE ANALYSES | GENETICS & HEREDITY | BINDING-PROTEIN | LIPOPROTEIN RECEPTOR GENE | MICE | CLINICAL-FEATURES | DYSEQUILIBRIUM SYNDROME | CEREBELLAR HYPOPLASIA | INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR | EASYLINKAGE | Haplotypes | Gait Ataxia - congenital | Biomarkers, Tumor - deficiency | Humans | Male | DNA Primers - genetics | Gait Disorders, Neurologic - genetics | Mutation, Missense | Intellectual Disability - genetics | Cerebellar Ataxia - physiopathology | Inositol 1,4,5-Trisphosphate Receptors - metabolism | Base Sequence | Gait Disorders, Neurologic - physiopathology | Ataxia - congenital | Female | Iraq | Ataxia - genetics | Ataxia - physiopathology | Gait Ataxia - genetics | Signal Transduction | Enzyme Stability | Gait Ataxia - physiopathology | Biomarkers, Tumor - physiology | Syndrome | Homozygote | Cerebellar Ataxia - genetics | Pedigree | Biomarkers, Tumor - genetics | Consanguinity | Cerebellar Ataxia - congenital | Inositol 1,4,5-Trisphosphate - metabolism | Gene mutations | Causes of | Ataxia | Genetic aspects | Research | Health aspects | Mental retardation | Risk factors | Gait disorders | Index Medicus | Proteins | Walking | Gene loci | Mutation | Animal cognition
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