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eNeurologicalSci, ISSN 2405-6502, 03/2020, Volume 18, p. 100218
Progressive deterioration of neuroimaging and electroencephalography (EEG) had been described in rhizomelic chondrodysplasia punctata (RCDP); however, serial... 
Cerebellar atrophy | Serial EEG | Presymptomatic treatment | Biomarker | Rhizomelic chondrodysplasia punctata | Plasmalogen
Journal Article
Neuroscience Letters, ISSN 0304-3940, 01/2020, Volume 715, p. 134628
Ethanol (EtOH) exposure causes alterations of motor coordination, balance, behavior, speech, and certain cognitive functions are considered to be caused partly... 
Cerebellar cortex | Molecular layer interneuron | Purkinje cell (PC) | Nitric oxide | Sensory stimulation | Chronic ethanol exposure | MLI | Cell-attached recording
Journal Article
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association, ISSN 1052-3057, 01/2020, p. 104600
Dyke-Davidoff-Masson syndrome (DDMS) was first described in 1933 as a clinical condition characterized by hemiatrophy, hyperpneumatization of paranasal... 
Journal Article
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, ISSN 1590-1874, 01/2020, Volume 41, Issue 1, pp. 155 - 160
Spinal cerebellar ataxia 11 (SCA11) is a rare disease, characterized by progressive cerebellar ataxia, abnormal eye sign. Four families have been reported in... 
Cerebellum | Neuroimaging | Conduction | Gait | Brain stem | Amino acids | Mutation rates | Kinases | Atrophy | Missense mutation | Animal breeding | Genetic analysis | Ataxia | Medulla oblongata | EMG | Movement disorders | Phenotypes | Strabismus | Cerebellar ataxia | Cortex | Pathogenicity | Genetic variance | Life span | Point mutation | Nystagmus | Mutation
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 01/2020
Journal Article
Behavioural Brain Research, ISSN 0166-4328, 12/2019, Volume 376, p. 112158
This study assessed the development of motor deficits in female hTau.P301S transgenic mice from 1.5 to 5.5 months of age. The test battery included clasping... 
Motor coordination | Alzheimer’s disease | Gait | Tauopathy | Frontotemporal dementia | Cerebellar nuclei
Journal Article
BMC medical genetics, ISSN 1471-2350, 12/2019, Volume 20, Issue 1, pp. 198 - 8
Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and... 
Genetic research | Medicine, Experimental | Medical research | Genetic aspects | Genes | Spastic ataxia | Perrault syndrome | Hyperintense cerebellar signal | TWNK
Journal Article
Italian journal of pediatrics, ISSN 1824-7288, 12/2019, Volume 45, Issue 1, pp. 155 - 4
Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing... 
Cerebellar atrophy | Hereditary spastic paraplegia | SPG30 | KIF1A
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 12/2019, Volume 24, Issue 4, pp. 348 - 353
Mutations in apoptosis‐inducing factor mitochondrion‐associated‐1 (AIFM1) cause X‐linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more... 
AIFM1 | X‐linked Charcot‐Marie‐Tooth type 4 (CMT4X) | X‐linked cerebellar ataxia
Journal Article
NATURE REVIEWS DISEASE PRIMERS, ISSN 2056-676X, 04/2019, Volume 5, Issue 1, p. 24
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of... 
MEDICINE, GENERAL & INTERNAL | MOUSE MODEL | CLINICAL-FEATURES | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | CAG-REPEAT | NATURAL-HISTORY | POLYGLUTAMINE AGGREGATION | DOMINANT CEREBELLAR-ATAXIA | INCLUSION-BODY FORMATION | HUNTINGTONS-DISEASE | TRINUCLEOTIDE REPEAT
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 12/2019, Volume 128, Issue 4, pp. 452 - 462
Lethal neonatal encephalopathies are heterogeneous congenital disorders that can be caused by mitochondrial dysfunction. Biallelic large deletions in the... 
MEDICINE, RESEARCH & EXPERIMENTAL | NUCLEAR | MEMBRANE-PROTEIN | PREVALENCE | CELL-LINES | ATAD3A | Cerebellar hypoplasia | Mitochondrial disorder | Mitochondrial ultrastructural alterations | DNA | GENES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Missense homozygous | DYNAMICS | Fatal neonatal encephalopathy | INNER
Journal Article
The Cerebellum, ISSN 1473-4222, 12/2019, Volume 18, Issue 6, pp. 989 - 998
Cerebellar hemorrhage (CBH) is a frequent complication of preterm birth and may play an important and under-recognized role in neurodevelopment outcome.... 
Neurology | Neurosciences | Biomedicine | Preterm infant | Magnetic resonance imaging | Neurobiology | Cerebellar hemorrhage | Outcome assessment | Risk factors | Preterminfant | GROWTH | INJURY | BIRTH | NEUROSCIENCES | CHILDREN | Cerebellum | Infants | Newborn babies | Hemorrhage
Journal Article
Neuroscience and Biobehavioral Reviews, ISSN 0149-7634, 12/2019, Volume 107, pp. 23 - 46
Journal Article
Cerebellum & ataxias, ISSN 2053-8871, 2019, Volume 6, Issue 1, pp. 5 - 9
Tremor is a common side effect of treatment with lithium. Its characteristics can vary and when less rhythmical, distinction from myoclonus can be difficult.... 
Medical research | Care and treatment | Antipsychotic drugs | Myoclonus | Antidepressants | Analysis | Alcoholism | Medicine, Experimental | Gluten | Neurophysiology | Medical imaging | Lithium | Patients | Psychotropic drugs | Neurology | Pathology | Celiac disease | Brain research | Spectrum analysis | Ataxia | Electromyography | Psychiatry | Quantitative analysis | Gluten sensitivity | Cortical myoclonus | Cerebellar ataxia | JLA | MRS
Journal Article