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1. Full Text Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson’s disease? – A saccade study on pathophysiology
by Terao, Yasuo and Fukuda, Hideki and Tokushige, Shinnichi and Inomata-Terada, Satomi and Yugeta, Akihiro and Hamada, Masashi and Ichikawa, Yaeko and Hanajima, Ritsuko and Ugawa, Yoshikazu
Clinical neurophysiology, ISSN 1388-2457, 2015, Volume 127, Issue 2, pp. 1491 - 1502
Neurology | Cerebellum | Saccade | Multiple system atrophy | Basal ganglia | Pathophysiology | Parkinson’s disease | Parkinson's disease | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinsonian Disorders - physiopathology | Cerebellar Ataxia - epidemiology | Humans | Middle Aged | Parkinsonian Disorders - diagnosis | Parkinsonian Disorders - epidemiology | Spinocerebellar Ataxias - epidemiology | Male | Spinocerebellar Ataxias - physiopathology | Multiple System Atrophy - epidemiology | Cerebellar Ataxia - physiopathology | Spinocerebellar Ataxias - diagnosis | Female | Saccades - physiology | Aged | Multiple System Atrophy - diagnosis | Multiple System Atrophy - physiopathology | Cerebellar Ataxia - diagnosis | Atrophy | Medicine, Experimental | Medical research | Spinocerebellar ataxia | Index Medicus
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2. 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 (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
retinal degeneration | genetics | hypogonadism | ataxia | hereditary spastic paraplegia | spastic ataxia | early onset ataxia | recessive ataxia | spasticity | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Retinopathies | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Nervous system as a whole | Medical sciences | Ophthalmology | Nervous system (semeiology, syndromes) | 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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3. Full Text Cerebral abnormalities in Friedreich ataxia: A review
by Selvadurai, Louisa P and Harding, Ian H and Corben, Louise A and Georgiou-Karistianis, Nellie
Neuroscience and biobehavioral reviews, ISSN 0149-7634, 01/2018, Volume 84, pp. 394 - 406
Neurodegenerative disorder | Neuroimaging | Spino-cerebellar ataxia | Cerebrum | Cerebro-cerebellar connectivity | Magnetic resonance imaging (MRI) | Friedreich ataxia | Functional magnetic resonance imaging (fMRI) | Diffusion tensor imaging (DTI) | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Behavioral Sciences | Science & Technology | Neuroimaging - methods | Friedreich Ataxia - pathology | Humans | Cerebral Cortex - pathology | Cerebellum - physiopathology | Cerebellum - pathology | Cerebral Cortex - physiopathology | White Matter - pathology | Friedreich Ataxia - physiopathology | Spinal Cord - pathology | Gray Matter - physiopathology | Models, Neurological | Neural Pathways - physiopathology | Ataxia | Nervous system diseases | Index Medicus
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4. Full Text Spinocerebellar ataxia type 2—neuronopathy or neuropathy?
by Pelosi, Luciana and Iodice, Rosa and Antenora, Antonella and Kilfoyle, Dean and Mulroy, Eoin and Rodrigues, Miriam and Roxburgh, Richard and Iovino, Aniello and Filla, Alessandro and Manganelli, Fiore and Santoro, Lucio
Muscle & nerve, ISSN 0148-639X, 09/2019, Volume 60, Issue 3, pp. 271 - 278
nerve ultrasound | axonal neuropathy | electrophysiology | spinocerebellar ataxia | sensory neuronopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Peripheral Nervous System Diseases - diagnosis | Sensation Disorders - physiopathology | Humans | Middle Aged | Male | Neural Conduction - physiology | Spinocerebellar Ataxias - physiopathology | Peripheral Nervous System Diseases - physiopathology | Peripheral Nerves - physiopathology | Nerve Tissue Proteins - metabolism | Upper Extremity - physiopathology | Cerebellar Ataxia - physiopathology | Adult | Female | Aged | Ultrasonography - methods | Nerve conduction | Ultrasonic imaging | Spinocerebellar ataxia | Peripheral nerves | Nerves | Muscles | Electrophysiology | Ataxia | Regression analysis | Neuropathy | Ultrasound | Index Medicus
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5. Full Text Locomotor patterns in cerebellar ataxia
by Martino, G and Ivanenko, Y.P and Serrao, M and Ranavolo, A and d’Avella, A and Draicchio, F and Conte, C and Casali, C and Lacquaniti, F
Journal of neurophysiology, ISSN 0022-3077, 12/2014, Volume 112, Issue 11, pp. 2810 - 2821
Central pattern generator | Cerebellar ataxia | Limb loading | Muscle activation patterns | Gait adaptation | Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Gait | Humans | Middle Aged | Male | Muscle, Skeletal - innervation | Case-Control Studies | Cerebellar Ataxia - physiopathology | Evoked Potentials, Motor | Locomotion | Biomechanical Phenomena | Muscle, Skeletal - physiopathology | Adult | Female | Aged | Index Medicus
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6. Full Text Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
by Wang, Yubin and Hersheson, Joshua and Lopez, Dulce and Hammer, Monia and Liu, Yan and Lee, Ka-Hung and Pinto, Vanessa and Seinfeld, Jeff and Wiethoff, Sarah and Sun, Jiandong and Amouri, Rim and Hentati, Faycal and Baudry, Neema and Tran, Jennifer and Singleton, Andrew B and Coutelier, Marie and Brice, Alexis and Stevanin, Giovanni and Durr, Alexandra and Bi, Xiaoning and Houlden, Henry and Baudry, Michel
Cell reports (Cambridge), ISSN 2211-1247, 06/2016, Volume 16, Issue 1, pp. 79 - 91
calpain-1 | apoptosis | development | ataxia | cerebellum | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Phosphorylation | Calpain - metabolism | Cell Count | Humans | Phosphoprotein Phosphatases - metabolism | Male | Calpain - genetics | Motor Activity | Calpain - chemistry | Synaptic Transmission | Intellectual Disability - genetics | Optic Atrophy - pathology | Cerebellum - embryology | Cerebellar Ataxia - physiopathology | Female | Proto-Oncogene Proteins c-akt - metabolism | Optic Atrophy - genetics | Spinocerebellar Ataxias - genetics | Animals, Newborn | Amino Acid Sequence | Cerebellum - metabolism | Intellectual Disability - pathology | Optic Atrophy - physiopathology | Nuclear Proteins - metabolism | Spinocerebellar Ataxias - physiopathology | Cerebellum - physiopathology | Cerebellar Ataxia - pathology | Spinocerebellar Ataxias - pathology | Mutation - genetics | Muscle Spasticity - pathology | Cerebellum - pathology | Mice, Knockout | Intellectual Disability - physiopathology | Animals | Cerebellar Ataxia - genetics | Muscle Spasticity - physiopathology | Enzyme Activation | Muscle Spasticity - genetics | Purkinje Cells - pathology | Aging - metabolism | Apoptosis | Index Medicus
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7. Full Text Gluten ataxia
by Hadjivassiliou, Marios and Sanders, David S and Woodroofe, Nicola and Williamson, Claire and Grünewald, Richard A
Cerebellum (London, England), ISSN 1473-4222, 9/2008, Volume 7, Issue 3, pp. 494 - 498
Neurology | Gluten ataxia | Neurosciences | Biomedicine | cerebellum | Neurobiology | Cerebellum | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epitopes - analysis | Prevalence | Cerebellar Diseases - epidemiology | Cerebellar Diseases - etiology | Humans | Celiac Disease - physiopathology | Ataxia - epidemiology | Purkinje Cells - physiology | Glutens - toxicity | Cerebellar Diseases - physiopathology | Celiac Disease - epidemiology | Ataxia - chemically induced | Purkinje Cells - drug effects | Purkinje Cells - pathology | Diet | Ataxia | Index Medicus
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8. Full Text Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia—Review of the Literature and a New Family
by Duat Rodriguez, Anna, MD, PhD and Prochazkova, Michaela, MD and Santos Santos, Saturnino, MD and Rubio Cabezas, Oscar, MD, PhD and Cantarin Extremera, Veronica, MD and Gonzalez-Gutierrez-Solana, Luis, MD
Pediatric neurology, ISSN 0887-8994, 2017, Volume 71, pp. 60 - 64
Pediatrics | Neurology | sensorineural hearing loss | optic atrophy | ATP1A3 gene | CAPOS syndrome | cerebellar ataxia | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Ataxia - physiopathology | Humans | Optic Atrophy - physiopathology | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - genetics | Male | Hearing Loss, Sensorineural - genetics | Ataxia - diagnosis | Reflex, Abnormal - genetics | Cerebellar Ataxia - physiopathology | Hearing Loss, Sensorineural - diagnosis | Cerebellar Ataxia - genetics | Foot Deformities, Congenital - physiopathology | Adult | Family | Female | Ataxia - genetics | Cerebellar Ataxia - diagnosis | Child | Early Diagnosis | Optic Atrophy - diagnosis | Hearing Loss, Sensorineural - physiopathology | Optic Atrophy - genetics | Ataxia | Diagnosis | Index Medicus
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9. Full Text Intersegmental coordination patterns are differently affected in Parkinson’s disease and cerebellar ataxia
by Israeli-Korn, Simon D and Israeli-Korn, Simon D and Barliya, Avi and Paquette, Caroline and Franzén, Erika and Inzelberg, Rivka and Horak, Fay B and Horak, Fay B and Flash, Tamar
Journal of neurophysiology, ISSN 0022-3077, 02/2019, Volume 121, Issue 2, pp. 672 - 689
Cerebellar ataxia | Intersegmental coordination | Parkinson’s disease | Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Gait | Basal Ganglia - physiopathology | Levodopa - therapeutic use | Humans | Middle Aged | Male | Cerebellum - physiopathology | Parkinson Disease - drug therapy | Parkinson Disease - physiopathology | Antiparkinson Agents - therapeutic use | Cerebellar Ataxia - physiopathology | Biomechanical Phenomena | Muscle, Skeletal - physiopathology | Aged, 80 and over | Adult | Female | Lower Extremity - physiopathology | Aged | Models, Neurological | Index Medicus | cerebellar ataxia | intersegmental coordination | Medicin och hälsovetenskap
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