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Topic Review
GM1 Gangliosidosis
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 776
  • 23 Dec 2020
Topic Review
MYOC Gene
myocilin
  • 776
  • 23 Dec 2020
Topic Review
IL23R Gene
Interleukin 23 receptor
  • 776
  • 23 Dec 2020
Topic Review
Unverricht-Lundborg Disease
Unverricht-Lundborg disease is a rare inherited form of epilepsy.
  • 776
  • 23 Dec 2020
Topic Review
SUMF1 Gene
Sulfatase modifying factor 1: The SUMF1 gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). 
  • 776
  • 24 Dec 2020
Topic Review
Argininosuccinic Aciduria
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 776
  • 24 Dec 2020
Topic Review
ATL1 Gene
atlastin GTPase 1. The ATL1 gene provides instructions for producing a protein called atlastin-1. 
  • 776
  • 24 Dec 2020
Topic Review
Renal Coloboma Syndrome
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development.
  • 776
  • 24 Dec 2020
Topic Review
NOTCH1 Gene
notch 1
  • 776
  • 24 Dec 2020
Topic Review
Multicentric Osteolysis, Nodulosis, and Arthropathy
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
  • 776
  • 23 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 6
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement.
  • 775
  • 23 Dec 2020
Topic Review
Isolated HyperCKemia
Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood.
  • 775
  • 23 Dec 2020
Topic Review
AMT Gene
aminomethyltransferase
  • 775
  • 24 Dec 2020
Topic Review
Rett Syndrome
Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome.
  • 775
  • 24 Dec 2020
Topic Review
Dopamine Beta-hydroxylase Deficiency
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
  • 775
  • 24 Dec 2020
Topic Review
Erythrokeratodermia Variabilis et Progressiva
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features.
  • 775
  • 25 Dec 2020
Topic Review
Factors Debilitating Mitochondrial Function
Alzheimer’s disease (AD) is the most frequent cause of age-related neurodegeneration and cognitive impairment, and there are currently no broadly effective therapies. The underlying pathogenesis is complex, but a growing body of evidence implicates mitochondrial dysfunction as a common pathomechanism involved in many of the hallmark features of the AD brain, such as the formation of amyloid-beta (Aβ) aggregates (amyloid plaques), neurofibrillary tangles, cholinergic system dysfunction, impaired synaptic transmission and plasticity, oxidative stress, and neuroinflammation, that lead to neurodegeneration and cognitive dysfunction. Indeed, mitochondrial dysfunction concomitant with progressive accumulation of mitochondrial Aβ is an early event in AD pathogenesis. Healthy mitochondria are critical for providing sufficient energy to maintain endogenous neuroprotective and reparative mechanisms, while disturbances in mitochondrial function, motility, fission, and fusion lead to neuronal malfunction and degeneration associated with excess free radical production and reduced intracellular calcium buffering. In addition, mitochondrial dysfunction can contribute to amyloid-β precursor protein (APP) expression and misprocessing to produce pathogenic fragments (e.g., Aβ1-40).
  • 775
  • 15 Jun 2021
Topic Review
Paget Disease of Bone
Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).
  • 774
  • 24 Dec 2020
Topic Review
NR0B1 Gene
nuclear receptor subfamily 0 group B member 1
  • 774
  • 24 Dec 2020
Topic Review
ADAMTSL4 Gene
ADAMTS like 4
  • 774
  • 05 Apr 2021
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