P. Jardine

J. Rankin, P. Rizzu, M. S. van der Knaap, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

The scleroatrophic syndrome of Huriez

R. Peachey, P. Jardine, D. Berker, 1997, The British journal of dermatology.

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

H. Christen, M. Reith, S. Heales, 2010, The Lancet Neurology.

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Paul Gissen, Shu-Yuan Cheng, M. Reith, 2009, The Journal of clinical investigation.

A Case Illustrating Proteus and Klippel-Trenaunay Syndrome Overlap

C. Kennedy, P. Lunt, P. Jardine, 1993, Journal of the Royal Society of Medicine.

Severe progressive late onset myelopathy and arachnoiditis following neonatal meningitis.

S. Renowden, R. Newton, P. Sharples, 2006, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy

K. Bushby, V. Straub, M. Eagle, 2008, Neuromuscular Disorders.

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

L. Tyfield, D. Bishop, P. Cotter, 1994, Journal of medical genetics.

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

P. Harper, M. Upadhyaya, J. Maynard, 1997, Journal of medical genetics.

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

G. Kirov, M. Owen, Danny J. Smith, 2013, Brain : a journal of neurology.

The association between Coffin-Lowry syndrome and psychosis: a family study.

P. Lunt, P. Jardine, J. M. Rao, 2008, Journal of intellectual disability research : JIDR.

A scapular onset muscular dystrophy without facial involvement: Possible allelism with facioscapulohumeral muscular dystrophy

P. Harper, M. Upadhyaya, J. Maynard, 1994, Neuromuscular Disorders.

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C

A. Mumford, C. Y. Fong, P. Jardine, 2010, Developmental medicine and child neurology.

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

P. Harper, M. Koch, M. Upadhyaya, 1994, Archives of disease in childhood.

De novo facioscapulohumeral muscular dystrophy defined by DNA probe pl 3 E-1 1 ( D 4 F 104 S 1 )

M. Upadhyaya, J. Maynard, P. Harper, 2004 .

Phenotypic–genotypic correlation will assist genetic counseling in 4q35‐facioscapulohumeral muscular dystrophy

P. Harper, M. Upadhyaya, J. Maynard, 1995, Muscle & nerve. Supplement.

De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

M. Upadhyaya, L. Tyfield, P. Lunt, 1993, Clinical genetics.

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.

C. Wijmenga, J. Farnham, P. Harper, 1993, Human molecular genetics.

Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.

L. Lingappa, E. Fernández-Álvarez, J. Colomer, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Very long chain fatty acid levels in patients diagnosed with multiple sclerosis

G. Ingram, N. Scolding, N. Robertson, 2009, Multiple sclerosis.

Hashimoto encephalopathy: A treatable cause of encephalopathy in children – further report of two cases

P. Sharples, P. Jardine, A. Akuma, 2015 .

Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.

P. Lunt, P. Jardine, L. Burvill-Holmes, 1993, Clinical dysmorphology.

O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD)

S. Heales, J. Zhen, M. Kurian, 2009 .

Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.

L. Lingappa, J. Colomer, A. Majumdar, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Childhood presentation of COL4A1 mutations

S. Ellard, J. Rankin, M. S. van der Knaap, 2012, Developmental medicine and child neurology.