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Friedreich Ataxia

Known as: Spinal Sclerosis, Hereditary, Ataxia, Friedreich's, Familial Ataxia, Friedreich's 
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior… 
National Institutes of Health

Related topics

Related topics

22 relations

Broader (4)

AtaxiaAtaxias, HereditaryHereditary DiseasesSpinocerebellar Degeneration
Ataxia, SpinocerebellarCentral Nervous SystemCerebellar Degenerations, PrimaryCerebellar Diseases

Narrower (3)

FRIEDREICH ATAXIA 1FRIEDREICH ATAXIA WITH RETAINED REFLEXESFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21… 
Highly Cited
2010
Highly Cited
2010
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.
Premutation CGG repeat expansions (55-200 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene give rise to… 
Highly Cited
2001
Highly Cited
2001
Ataxia Telangiectasia Mutated-Dependent Apoptosis after Genotoxic Stress in the Developing Nervous System Is Determined by Cellular Differentiation Status
Ataxia-telangiectasia (A-T) is a neurodegenerative syndrome resulting from dysfunction of ATM (ataxia telangiectasia mutated… 
Highly Cited
2001
Highly Cited
2001
ADEM
Acute disseminated encephalomyelitis (ADEM) is a rare inflammatory demyelinating disease of the CNS affecting predominantly… 
Highly Cited
1999
Highly Cited
1999
Impaired Intracellular Trafficking Is a Common Disease Mechanism ofPMP22Point Mutations in Peripheral Neuropathies
The most common forms of hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth disease (CMT) are associated… 
Highly Cited
1995
Highly Cited
1995
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
Infantile-onset spinocerebellar ataxia (IOSCA) is an autosomal recessively inherited progressive neurological disorder of unknown… 
Highly Cited
1994
Highly Cited
1994
Antioxidant status and lipid peroxidation in hereditary haemochromatosis.
Highly Cited
1988
Highly Cited
1988
Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.
We have documented mortality and cancer incidence in the families of 67 patients with ataxia-telangiectasia and 48 patients with… 
Highly Cited
1978
Highly Cited
1978
Familial association of breast/ovarian carcinoma
Twelve pedigrees which show clustering of breast/ovarian cancer among female relatives are analyzed from a medical‐genetic… 
Highly Cited
1977
Highly Cited
1977
Studies of idiopathic intestinal pseudoobstruction. I. Hereditary hollow visceral myopathy: clinical and pathological studies.
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