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Journal of Neurology, ISSN 0340-5354, 10/2017, Volume 264, Issue 10, pp. 2095 - 2100
The phenotype of juvenile Huntington’s disease (HD) differs clearly from that of adult-onset HD, but information about differences between mid-age-onset HD and... 
Neurology | Neurosciences | Phenotype | Prevalence | Medicine & Public Health | Age of onset | Neuroepidemiology | Disease progression | Neuroradiology | Neurodegenerative disorders | Huntingtons disease | Trinucleotide repeats | Huntington's disease | Patients | Age
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 9, pp. 701 - 711
Journal Article
Neuroepidemiology, ISSN 0251-5350, 03/2016, Volume 46, Issue 2, pp. 154 - 155
Journal Article
Oxford Medical Case Reports, ISSN 2053-8855, 10/2018, Volume 2018, Issue 10, pp. 339 - 341
Being treatable, steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), or Hashimoto's encephalopathy, should be distinguished from... 
Viral antibodies | Antibodies | Alzheimer's disease | Encephalopathy | Thyroid diseases
Journal Article
Neurology, ISSN 0028-3878, 03/2012, Volume 78, Issue 10, pp. 690 - 695
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The... 
HOMOZYGOSITY | ALLELE | OF-ONSET | GENE | LENGTH | MUTATION | CHROMOSOMES | CLINICAL NEUROLOGY | TRINUCLEOTIDE REPEAT | Humans | Age of Onset | Alleles | Huntington Disease - genetics | Adult | Female | Genotype | Huntington Disease - diagnosis | Male | Trinucleotide Repeat Expansion | 164
Journal Article
Case Reports in Neurology, ISSN 1662-680X, 11/2014, Volume 6, Issue 3, pp. 275 - 280
Akinetic crisis or acute akinesia is a life-threatening complication of Parkinson's disease (PD) with unknown pathophysiological mechanisms. Clinically, it... 
Published: November 2014 | Dopamine transporter | Parkinson's disease | Akinesia | SPECT | Parkinson’s disease
Journal Article
Epilepsia, ISSN 0013-9580, 06/2008, Volume 49, Issue 6, pp. 1038 - 1045
Purpose: Polymerase gamma (POLG) is the sole enzyme in the replication of mitochondrial DNA (mtDNA). Numerous mutations in the POLG1 gene have been detected... 
Metabolic diseases | Mitochondrial diseases | Genetic diseases | Status epilepticus | genetic diseases | DNA-POLYMERASE-GAMMA | PARKINSONISM | metabolic diseases | HUTTENLOCHER-SYNDROME | PROGRESSIVE NEURONAL DEGENERATION | AUTOSOMAL RECESSIVE ATAXIA | DEPLETION | LIVER-DISEASE | CHILDHOOD | CLINICAL NEUROLOGY | status epilepticus | mitochondrial diseases | EXTERNAL OPHTHALMOPLEGIA | DELETIONS | DNA Polymerase gamma | Liver - pathology | Epilepsy, Tonic-Clonic - diagnosis | Humans | Migraine Disorders - diagnosis | Diffuse Cerebral Sclerosis of Schilder - diagnosis | Electroencephalography | Status Epilepticus - genetics | DNA-Directed DNA Polymerase - genetics | Status Epilepticus - diagnosis | Diffuse Cerebral Sclerosis of Schilder - genetics | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Epilepsy, Tonic-Clonic - pathology | Liver Failure, Acute - genetics | Migraine Disorders - pathology | Fatal Outcome | Female | Diagnosis, Differential | Status Epilepticus - pathology | Liver Failure, Acute - diagnosis | Sequence Analysis, DNA | Epilepsy, Tonic-Clonic - genetics | Homozygote | Migraine Disorders - genetics | Liver Failure, Acute - pathology | Adolescent | Brain - pathology | Diffuse Cerebral Sclerosis of Schilder - pathology | Care and treatment | Gene mutations | Genetic research | Genetic aspects | Mitochondrial DNA | Seizures (Medicine)
Journal Article
Case Reports in Neurology, ISSN 1662-680X, 01/2014, Volume 6, Issue 1, pp. 28 - 33
Here, we present a patient with Creutzfeldt-Jakob disease (CJD) who developed initial symptoms mimicking progressive supranuclear palsy (PSP). Before the... 
Published: January 2014 | MRI | Progressive supranuclear palsy | PET | Creutzfeldt-Jakob disease
Journal Article