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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Journal article

Watson LM. et al, (2017), Am J Hum Genet, 101, 451 - 458

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Journal article

Sleven H. et al, (2017), Am J Hum Genet, 100, 138 - 150

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Journal article

Ng YS. et al, (2016), Neuromuscul Disord, 26, 702 - 705

Genetic testing in neurology

Journal article

Lefroy H. et al, (2016), Medicine (United Kingdom), 44, 508 - 512

THE KNOWN UK CASES OF ATAXIA TELANGIECTASIA-LIKE DISORDER (ATLD)

Conference paper

Westwood K. et al, (2015), JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 86

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Journal article

Loveday C. et al, (2015), Hum Mol Genet, 24, 4775 - 4779

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Journal article

Abrams AJ. et al, (2015), Nat Genet, 47, 926 - 932

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Journal article

Parolin Schnekenberg R. et al, (2015), Brain, 138, 1817 - 1832

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Journal article

Taylor JC. et al, (2015), Nat Genet, 47, 717 - 726

SPG7 mutations are a common cause of undiagnosed ataxia.

Journal article

Pfeffer G. et al, (2015), Neurology, 84, 1174 - 1176

H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene

Journal article

Anand G. et al, (2015), Pediatric Infectious Disease Journal, 34, 318 - 320

H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene.

Journal article

Anand G. et al, (2015), Pediatr Infect Dis J, 34, 318 - 320

Exercise testing and training in people with Huntington's disease.

Journal article

Dawes H. et al, (2015), Clin Rehabil, 29, 196 - 206

Task-specific training in Huntington disease: a randomized controlled feasibility trial.

Journal article

Quinn L. et al, (2014), Phys Ther, 94, 1555 - 1568

Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

Journal article

Collett J. et al, (2014), Gait Posture, 40, 694 - 700

SAFETY AND TOLERABILITY OF SELISISTAT FOR THE TREATMENT OF HUNTINGTON'S DISEASE: RESULTS FROM A RANDOMISED, DOUBLE-BLIND, PLACEBO-CONTROLLED PHASE II TRIAL

Conference paper

Reilmann R. et al, (2014), JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 85, A102 - A102

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