M. Davis

发表

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

I. Scheffer, L. Martinian, S. Sisodiya, 2011, Brain : a journal of neurology.

Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.

A. Bird, M. Michaelides, M. Sweeney, 2008, Archives of ophthalmology.

Coexistent hereditary and inflammatory neuropathy.

D. Sharp, R. Orrell, R. King, 2004, Brain : a journal of neurology.

Expanding the phenotypes of the Pro56Ser VAPB mutation: Proximal SMA with dysautonomia

M. Zago, W. Marques, P. Abou-Sleiman, 2006, Muscle & nerve.

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

N. Wood, H. Houlden, P. Giunti, 2000, Nature Genetics.

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset

N W Wood, A Albanese, A. Bentivoglio, 2001, Annals of neurology.

Park6‐linked parkinsonism occurs in several european families

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Annals of neurology.

Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

Andrew J Lees, Sarah J Tabrizi, Clement T Loy, 2005, Movement disorders : official journal of the Movement Disorder Society.

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

F. Scaravilli, N. Wood, M. Groves, 2003, Human molecular genetics.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

B. Schlotter-Weigel, L. Schöls, T. Pieber, 2007, Journal of the Neurological Sciences.

Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

Janel O. Johnson, D. Hernandez, A. Singleton, 2008, Nature Genetics.

Neuropathology of Dravet syndrome

Maria Thom, Lillian Martinian, Sm Sisodiya, 2011 .

Clinical Autonomic Research Society Annual Meeting

A. Hingorani, C. Mathias, K. Bhatia, 2006, Clinical Autonomic Research.

Mapping the disease locus in a large kindred with generalised epilepsy

John S. Duncan, Simon Shorvon, Jw Sander, 2002 .

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.

D. Booth, A. Harding, P. Thomas, 1995 .

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Paola Giunti, Nicholas W. Wood, Patricia Limousin, 2018, Front. Cell. Neurosci..

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.

J. Collinge, S. Tabrizi, T. Révész, 2004, Human molecular genetics.

Characterization of PLA2G6 as a locus for dystonia‐parkinsonism

D. Hernandez, A. Singleton, J. Hardy, 2008, Annals of neurology.

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

P. Jarman, K. Bhatia, E. Valente, 2002, Movement disorders : official journal of the Movement Disorder Society.

Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15

Michael R. Johnson, Josemir W Sander, J. Stevens, 2002, Annals of neurology.

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

A. Singleton, N. Quinn, D. Brooks, 2005, Brain : a journal of neurology.

Prevalence study of genetically defined skeletal muscle channelopathies in England

M. Hanna, D. R. Raja Rayan, E. Matthews, 2013, Neurology.

Huntington's disease phenocopies are clinically and genetically heterogeneous

M. Rossor, S. Tabrizi, S. Schneider, 2008, Movement disorders : official journal of the Movement Disorder Society.

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

H. Houlden, A. Pandraud, J. Polke, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

The Role of Interruptions in polyQ in the Pathology of SCA1

A. Pastore, N. Wood, M. Sweeney, 2013, PLoS genetics.

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

J. Hardy, K. Bhatia, D. Trabzuni, 2013, Annals of neurology.

Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders

C. Rodeck, P. Abou-Sleiman, J. Harper, 2002, Prenatal diagnosis.

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

D. Kullmann, S. Schorge, N. Wood, 2010, The Journal of physiology.

Genetic linkage analysis of a large family with photoparoxysmal response

S. Shorvon, N. Wood, H. Houlden, 2012, Epilepsy Research.

Lineage-specific expression of polypyrimidine tract binding protein (PTB) in Drosophila embryos

Weitao Sun, D. Standiford, M. Davis, 2002, Mechanisms of Development.

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

S. Tabrizi, H. Houlden, M. Sweeney, 2010, Movement disorders : official journal of the Movement Disorder Society.

A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia

N. Quinn, K. Bhatia, N. Wood, 2000, Movement disorders : official journal of the Movement Disorder Society.

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

M. Sweeney, P. Giunti, Mary B. Davis, 2018, Front. Cell. Neurosci..

Genetics of Parkinsonism: a review

N. Wood, J. Vaughan, M. Davis, 2001, Annals of human genetics.

An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family

M. Sweeney, J. Polke, S. Heales, 2011, Movement disorders : official journal of the Movement Disorder Society.

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

Janel O. Johnson, D. Hernandez, A. Singleton, 2007, Nature Genetics.

Endothelial, Sympathetic, and Cardiac Function in Inherited (6R)-L-Erythro-5,6,7,8-Tetrahydro-L-Biopterin Deficiency

A. Hingorani, C. Mathias, K. Bhatia, 2010, Circulation. Cardiovascular genetics.

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years

Janel O. Johnson, A. Singleton, N. Wood, 2005, Movement disorders : official journal of the Movement Disorder Society.

MFN2 mutations cause severe phenotypes in most patients with CMT2A

M. Shy, M. Davis, S. Feely, 2011, Neurology.

The phenotypic manifestations of chromosome 17p11.2 duplication.

A. Harding, P. Thomas, W. Marques, 1997, Brain : a journal of neurology.

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

N. Wood, H. Houlden, M. Davis, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

Diagnostic genetic testing for Huntington's disease

R. Roos, D. Craufurd, R. Macleod, 2014, Practical Neurology.

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

N W Wood, N. Wood, M. Davis, 1999, American journal of human genetics.

Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family.

C. Marsden, P. Jarman, N. Wood, 1997, Brain : a journal of neurology.

Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77)

A. Harding, M. Davis, M. Reilly, 1995, Journal of Neurology.

Transthyretin gene mutations in British and French patients with amyloid neuropathy.

K. Bhatia, A. Harding, P. Thomas, 1993, Journal of neurology, neurosurgery, and psychiatry.

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

D. Kullmann, G. Meola, S. Schorge, 2009, Neurology.

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

A. Harding, M. Davis, M. Sweeney, 1992, American journal of human genetics.

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

A. Federico, N. Wood, M. Davis, 1998, Brain : a journal of neurology.

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

A. Harding, M. Davis, M. Sweeney, 1992, American journal of human genetics.

Linkage analysis with chromosome 9 markers in hereditary essential tremor

P. Thompson, C. Marsden, P. Bain, 1993, Movement disorders : official journal of the Movement Disorder Society.

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

D. Kullmann, S. Schorge, N. Tubridy, 2009, Journal of Medical Genetics.

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

D. Booth, A. Harding, P. Thomas, 1996, Neuromuscular Disorders.

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

K. Bhatia, N. Wood, E. Valente, 2000, Brain : a journal of neurology.

A Family with Friedreich Ataxia and Onion‐Bulb Formations at Sural Nerve Biopsy

W. Marques, L. Chimelli, M. L. Paço-Larson, 1999, Annals of the New York Academy of Sciences.

Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study.

M. Farrer, S. Lincoln, D. Brooks, 2002, Brain : a journal of neurology.

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

N. Wood, A. Harding, M. Davis, 1996, American journal of human genetics.

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

H. Houlden, A. Pandraud, J. Polke, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Tyrosine hydroxylase polymorphism in familial and sporadic Parkinson's disease

D. Maraganore, A. Harding, M. Davis, 1994, Movement disorders : official journal of the Movement Disorder Society.