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European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 45 - 45
Journal Article
Journal Article
The Kurume Medical Journal, ISSN 0023-5679, 2016, Volume 63, Issue 3.4, pp. 81 - 84
We describe two cases of typical essential tremor with aspartic acidemia and mildly increased concentrations of plasma glutamic acid. Although this is a... 
glutamic acid | essential tremor | taurine | aspartic acid | amino acid | Glutamic acid | Taurine | Aspartic acid | Amino acid | Essential tremor
Journal Article
The Kurume Medical Journal, ISSN 0023-5679, 2017, Volume 63, Issue 3.4, p. 81
We describe two cases of typical essential tremor with aspartic acidemia and mildly increased concentrations of plasma glutamic acid. Although this is a... 
essential tremor | taurine | aspartic acid | amino acid | glutamic acid | Predictive Value of Tests | Humans | Acidosis - blood | Male | Biomarkers - blood | Essential Tremor - etiology | Aspartic Acid - blood | Magnetic Resonance Imaging | Acidosis - complications | Acidosis - diagnosis | Adult | Female | Aged | Glutamic Acid - blood | Essential Tremor - diagnosis
Journal Article
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 06/2019, Volume 10, p. 600
We describe a 60-year-old woman with combined central and peripheral demyelination who presented with obstinate constipation, weakness in the lower limbs, and... 
therapy | reversible conduction failure (RCF) | total plasma exchange | combined central and peripheral demyelination (CCPD) | NEUROSCIENCES | lactosylceramide | CLINICAL NEUROLOGY | encephalomyeloradiculoneuropathy (EMRN) | steroid | Viral antibodies | Medical research | Usage | Antibodies | Medicine, Experimental | Constipation | Risk factors
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018
Distal hereditary motor neuropathies (dHMNs) comprise a group of clinically and genetically heterogeneous inherited lower motor neuron syndromes mainly... 
Autosomal dominant | TDRKH | Tudor | Hereditary distal motor neuropathy (dHMN) | Missense
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2018, Volume 396, pp. 3 - 7
AbstractBackground and objectivesMeta-iodobenzylguanidine (MIBG) myocardial scintigraphy is an effective tool for distinguishing Parkinson's disease (PD) from... 
Neurology | MIBG myocardial scintigraphy | Autonomic dysfunction | Brainstem atrophy | Progressive supranuclear palsy (PSP) | Parkinson's disease (PD) | DIAGNOSIS | NERVE | LEWY BODY | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | HEART | CARDIAC SYMPATHETIC DENERVATION | CONSENSUS STATEMENT | PARKINSONS-DISEASE
Journal Article
Neurology and Clinical Neuroscience, ISSN 2049-4173, 07/2015, Volume 3, Issue 4, pp. 150 - 152
Mutations in the anoctamin 5 gene cause either limb girdle muscular dystrophy or Miyoshi muscular dystrophy 3 in Caucasians. We herein describe a 49‐year‐old... 
anoctamin 5 | magnetic resonance imaging | muscular dystrophy | hypoplastic genitalia | Japanese
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 22, pp. 6552 - 6563
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2013, Volume 54, Issue 9, pp. 6248 - 6254
Journal Article
Nosotchu, ISSN 0912-0726, 2018, Volume 40, Issue 5, pp. 367 - 371
Journal Article
Multiple Sclerosis and Related Disorders, ISSN 2211-0348, 04/2019, Volume 29, pp. 108 - 110
There are no specific radiologic features in MOG-Ab (autoantibodies directed against myelin oligodendrocyte glycoprotein)-associated diseases. We present two... 
Treatment | Cingulate cortex | Myelin oligodendrocyte glycoprotein (MOG) | MRI | SPECT | CLINICAL NEUROLOGY | Usage | Glycoproteins | SPECT imaging | Autoantibodies | Research
Journal Article
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