R. Birch

发表

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

S. Lord, J. Trollor, W. Wen, 2017, Neurobiology of Aging.

DRAVET SYNDROME: CLINICAL, GENETIC, AND NEUROPATHOLOGICAL CHARACTERIZATION IN A SERIES OF PATIENTS

Maria Thom, Lillian Martinian, Matthias J. Koepp, 2009 .

Correspondenceguidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010 .

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010, BMC Medical Genetics.

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

I. Scheffer, S. Berkovic, J. Mulley, 2009, Journal of Medical Genetics.

Understanding the Neuropsychiatric Phenotype of Fragile X-Associated Tremor Ataxia Syndrome: a Systematic Review

J. Trollor, K. Cornish, D. Hocking, 2014, Neuropsychology Review.

A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus

S. Zuberi, A. McLellan, J. Livingston, 2009, Journal of child neurology.

Genotype–phenotype associations in SCN1A-related epilepsies

J. Duncan, S. Zuberi, A. Brunklaus, 2011, Neurology.

Problems managed and medications prescribed during encounters with people with autism spectrum disorder in Australian general practice

N. Lennox, J. Trollor, H. Britt, 2018, Autism : the international journal of research and practice.

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

P. Schwartz, A. Al-Chalabi, L. Nashef, 2008, Epilepsia.

Emerging topics in FXTAS

G. Stebbins, J. Trollor, S. Fahn, 2014, Journal of Neurodevelopmental Disorders.

Performance-Based Assessment of Instrumental Activities of Daily Living: Validation of the Sydney Test of Activities of Daily Living in Memory Disorders (STAM).

P. Sachdev, J. Trollor, N. Kochan, 2017, Journal of the American Medical Directors Association.

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

E. Leshinsky‐Silver, D. Lev, S. Zuberi, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cognitive Dysfunction in Chronic Fatigue Syndrome: a Review of Recent Evidence

E. Cvejic, U. Vollmer-Conna, R. Birch, 2016, Current Rheumatology Reports.

Selective subcortical contributions to gait impairments in males with the FMR1 premutation

S. Lord, J. Trollor, W. Wen, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

J. Trollor, W. Wen, N. Georgiou-Karistianis, 2015, Genes, brain, and behavior.

Fragile X-associated disorders: Don't miss them.

J. Trollor, J. Cohen, R. Birch, 2017, Australian family physician.

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010, BMC medical genetics.

Prevalence and predictors of subjective memory complaints in adult male carriers of the FMR1 premutation

J. Trollor, D. Hocking, R. Birch, 2016, The Clinical neuropsychologist.

Understanding the Neuropsychiatric Phenotype of Fragile X-Associated Tremor Ataxia Syndrome: a Systematic Review

J. Trollor, K. Cornish, D. Hocking, 2014, Neuropsychology Review.

Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife.

J. Trollor, R. Birch, 2017, JAMA neurology.