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About 18 results

ALLMedicine™ Andermann Syndrome Center

Research & Reviews  9 results

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation i...
https://doi.org/10.1002/ajmg.a.61110
American Journal of Medical Genetics. Part A; Pacheva I, Todorov T et. al.

Mar 14th, 2019 - Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. AS occurs occasionally among ...

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent ...
https://doi.org/10.1016/j.nbd.2017.06.013
Neurobiology of Disease; Bowerman M, Salsac C et. al.

Jun 25th, 2017 - Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal lo...

Experience of carrier couples identified through a population-based carrier screening p...
https://doi.org/10.1002/pd.5055
Prenatal Diagnosis; Tardif J, Pratte A et. al.

Apr 18th, 2017 - A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada, for four recessive diseases with local founder effects (tyrosinemia type I, autosomal recessive spastic ataxia of Charlevoi...

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduct...
https://doi.org/10.1111/j.1529-8027.2012.00374.x
Journal of the Peripheral Nervous System : JPNS; Lourenço CM, Dupré N et. al.

Apr 2nd, 2012 - Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial ...

Andermann syndrome
https://rarediseases.info.nih.gov/diseases/1537/andermann-syndrome

Mar 2nd, 2011 - Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms ...

see more →

Clinicaltrials.gov  9 results

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation i...
https://doi.org/10.1002/ajmg.a.61110
American Journal of Medical Genetics. Part A; Pacheva I, Todorov T et. al.

Mar 14th, 2019 - Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. AS occurs occasionally among ...

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent ...
https://doi.org/10.1016/j.nbd.2017.06.013
Neurobiology of Disease; Bowerman M, Salsac C et. al.

Jun 25th, 2017 - Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal lo...

Experience of carrier couples identified through a population-based carrier screening p...
https://doi.org/10.1002/pd.5055
Prenatal Diagnosis; Tardif J, Pratte A et. al.

Apr 18th, 2017 - A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada, for four recessive diseases with local founder effects (tyrosinemia type I, autosomal recessive spastic ataxia of Charlevoi...

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduct...
https://doi.org/10.1111/j.1529-8027.2012.00374.x
Journal of the Peripheral Nervous System : JPNS; Lourenço CM, Dupré N et. al.

Apr 2nd, 2012 - Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial ...

Andermann syndrome
https://rarediseases.info.nih.gov/diseases/1537/andermann-syndrome

Mar 2nd, 2011 - Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms ...

see more →