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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Journal article

Watson LM. et al, (2017), The American Journal of Human Genetics, 101, 451 - 458

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Journal article

Sleven H. et al, (2017), The American Journal of Human Genetics, 100, 138 - 150

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

Journal article

Ng YS. et al, (2016), Neuromuscular Disorders, 26, 702 - 705

Genetic testing in neurology

Journal article

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

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Journal article

McEntagart M. et al, (2016), The American Journal of Human Genetics, 98, 981 - 992

Corrigendum

Journal article

(2016), Brain, 139, e14 - e14

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

Conference paper

Westwood K. et al, (2015), Journal of Neurology, Neurosurgery & Psychiatry, 86, e4.184 - e4

Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth

Journal article

Loveday C. et al, (2015), Human Molecular Genetics, 24, 4775 - 4779

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

Journal article

Abrams AJ. et al, (2015), Nature Genetics, 47, 926 - 932

De novopoint 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), Nature Genetics, 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), The Pediatric Infectious Disease Journal, 34, 318 - 320

Exercise testing and training in people with Huntington’s disease

Journal article

Dawes H. et al, (2015), Clinical Rehabilitation, 29, 196 - 206

Task-Specific Training in Huntington Disease: A Randomized Controlled Feasibility Trial

Journal article

Quinn L. et al, (2014), Physical Therapy, 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

J05 Task-specific Training In Huntington's Disease: A Randomised, Controlled Feasibility Trial

Conference paper

Quinn L. et al, (2014), Journal of Neurology, Neurosurgery & Psychiatry, 85, A66 - A67

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