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Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 07/2019, Volume 64, pp. 293 - 299
To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical... 
McLeod syndrome | hyperCKemia | Obstructive sleep apnea | Neuroacanthocytosis | XK GENE MUTATION | DIAGNOSTIC EVALUATION | CLINICALLY NORMAL-SUBJECTS | CLINICAL NEUROLOGY | Medical research | Sleep | Gene mutations | Comorbidity | Creatine kinase | Medicine, Experimental | Sleep apnea syndromes | Genetic aspects | Creatine
Journal Article
Revue Neurologique, ISSN 0035-3787, 01/2019, Volume 175, Issue 1-2, pp. 81 - 86
Atypical motor neuron disease represents a rare heterogeneous group of neurodegenerative disorders with clinical, genetic and neuroimaging features distinct... 
Amyotrophic lateral sclerosis | O'Sullivan–McLeod syndrome | Motor neuron disease | Spinal muscular atrophy | Neuronopathy | HEREDITARY MOTOR | SPINAL MUSCULAR-ATROPHY | NEUROPATHIES | O'Sullivan-McLeod syndrome | UPPER LIMBS OSULLIVAN | CLINICAL NEUROLOGY
Journal Article
Movement Disorders, ISSN 0885-3185, 09/2011, Volume 26, Issue 11, pp. 2123 - 2126
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 03/2019, Volume 60, pp. 158 - 161
To document life expectancy and causes of death in chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). We reviewed our personal databases and the published... 
McLeod syndrome | Chorea-acanthocytosis | Morbidity | DISORDER | HUNTINGTONS-DISEASE | CLINICAL NEUROLOGY | Life expectancy | Health aspects | Chorea | Mortality
Journal Article
Journal Article
Clinical Neurology and Neurosurgery, ISSN 0303-8467, 09/2019, Volume 184, p. 105421
Journal Article
American Journal of Clinical Pathology, ISSN 0002-9173, 09/2013, Volume 140, Issue suppl_1, pp. A063 - A063
Journal Article