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Mitochondrial Plasticity and Quality Control in Health and Disease
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Pathophysiology of Headaches
This book provides a detailed overview of the current state of knowledge regarding the pathophysiology of both primary headaches – migraine, tension-type headache (TTH), and cluster headache – and the very important and frequent type of secondary headache, medication overuse headache (MOH). After an introductory chapter describing relevant neuroanatomy and vascular anatomy, the evidence gained from animal models regarding the pathophysiology of migraine and the other primary headaches is reviewed. Knowledge of the genetic component in the different types of headache is then examined with reference to recent evidence, for example regarding the implication of the trigeminovascular system a...
JIMD Reports, Volume 38
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
Pediatric Neurology Part III
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological signs in “complicated” forms. Major advances have been made during the past two decades in our understanding of their molecular bases with the identification of a large number of gene loci and the cloning of a set of them. The combined genetic and clinical information obtained has permitted a new, molecularly-driven classification and an improved diagnosis of these conditions. This represents a prerequisite for better counseling in families and more appropriate therapeutic options. However, further heterogeneity is expected and new insight into the possible mechanisms anticipated.
Hereditary Spastic Paraplegias: at the Crossroads of Molecular Pathways and Clinical Options
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The Neuronal Ceroid Lipofuscinoses (Batten Disease)
This second edition is the definitive reference text on the neuronal ceroid lipofuscinoses (NCLs; also known as 'Batten Disease').
