P. Chance

发表

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

T. Bird, M. Robertson, N. Matsunami, 1992, Nature Genetics.

PRACTICAL GENETICS In association with Joubert syndrome ( and related disorders

I. Glass, P. Chance, M. Parisi, 2007 .

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.

K. Fischbeck, P. Chance, K. Fischbeck, 1994, Human molecular genetics.

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

John W Griffin, Imke Puls, K. Fischbeck, 2004, American journal of human genetics.

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

I. Glass, D. Shaw, W. Dobyns, 2004, American journal of human genetics.

Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.

J. Lupski, P. Chance, 1994, Bailliere's clinical neurology.

Mapping of the kinesin-related gene ATSV to chromosome 2q37

P. Chance, M. Keller, B. Rabin, 1999, Human Genetics.

Inherited focal, episodic neuropathies

P. Chance, 2006, Neuromolecular medicine.

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

J. Goldy, T. Bird, S. Scherer, 2003, Neurology.

Inherited Neuropathies: From Gene to Disease

P. Chance, M. Keller, 1999, Brain pathology.

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A‐REP repeat

G. Sobue, A. Ohnishi, P. Chance, 1998, Human mutation.

Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

I. Glass, P. Chance, D. Lynch, 2006, Neurobiology of Disease.

Charcot-marie-tooth disease and related disorders

M. Hannibal, P. Chance, B. E. Shapiro, 2006 .

Neurotrophin-3 therapy for Charcot–Marie–Tooth disease type 1A

D. Pleasure, P. Chance, 2005, Neurology.

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.

J. Lupski, P. Chance, C. Garcia, 1993, JAMA.

An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci.

E. Petty, D. J. Law, P. Chance, 1999, Genomics.

Genetic evaluation of inherited motor/sensory neuropathy.

P. Chance, 2004, Supplements to Clinical neurophysiology.

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

G. Sobue, H. Kiyosawa, A. Ohnishi, 1997, Human Genetics.

Charcot-Marie-Tooth syndrome.

D. Pleasure, P. Chance, 1993, Archives of neurology.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

H. Ochs, P. Ferguson, F. Ramsdell, 2001, Nature Genetics.

Hereditary neuropathy with liability to pressure palsies

P. Dyck, P. Chance, 1998, Neurology.

Severe vincristine neuropathy in charcot‐marie‐tooth disease type 1A

T. Bird, M. Lensch, P. Chance, 1996 .

Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies

J. Lupski, C. Broeckhoven, P. Chance, 1996, European journal of human genetics : EJHG.

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI

I. Glass, P. Chance, M. Parisi, 2005, Prenatal diagnosis.

Myelin genes: getting the dosage right

S. Scherer, P. Chance, 1995, Nature Genetics.

The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease

P. Chance, A. Craig, M. Al-Mateen, 2014, Journal of child neurology.

Inherited Peripheral Neuropathy

P. Chance, M. Keller, M. Keller, 1999, Seminars in neurology.

SIMPLE interacts with NEDD4 and TSG101: Evidence for a role in lysosomal sorting and implications for Charcot‐Marie‐Tooth disease

P. Chance, A. Shirk, C. Bennett, 2005, Journal of neuroscience research.

Charcot-Marie-Tooth disease

Jay J. Han, P. Chance, J. England, 2008, Current treatment options in neurology.

Charcot-Marie-Tooth disease: electrophysiology, molecular genetics and clinical management.

P. Chance, J. England, G. Carter, 2004, IDrugs : the investigational drugs journal.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

T. Bird, P. Chance, V. Timmerman, 2004, Annals of neurology.

Lorenzo's oil: advances in the treatment of neurometabolic disorders.

Raymond T. Ferri, P. Chance, 2005, Archives of neurology.

Molecular Basis of Neuromuscular Disease

T. Crawford, E. Hoffman, T. Ashizawa, 1998 .

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

E. Ringelstein, J. Meuleman, T. Bird, 2005, Nature Genetics.

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25

T. Rebbeck, T. Bird, M. Farlow, 1997, Human Genetics.

Inherited focal, episodic neuropathies

P. Chance, 2012, NeuroMolecular Medicine.

Chapter 70 – Hereditary Motor and Sensory Neuropathies Involving Altered Dosage or Mutation of PMP22: The CMT1A Duplication and HNPP Deletion

J. Lupski, P. Chance, 2005 .

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

C. Disteche, S. Odelberg, T. Bird, 1993, Cell.

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.

P. Chance, M. Keller, B. Seifried, 1999, Molecular biology and evolution.

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

J. Lupski, P. Patel, M. Lensch, 1994, Human molecular genetics.

Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features

J. Lupski, P. Dyck, C. Klein, 2005 .

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.

H. Kiyosawa, P. Chance, 1996, Human molecular genetics.

Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes

M. Koenig, W. Dobyns, P. Chance, 1999, Journal of child neurology.

Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype

T. Bird, N. Matsunami, A. Brothman, 1992, Neurology.

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.

N. Arnheim, W. Navidi, P. Chance, 2000, Human molecular genetics.

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

J. Lupski, P. Chance, B. Roa, 1993, Nature Genetics.

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

I. Glass, A. Barkovich, W. Dobyns, 2004, American journal of medical genetics. Part A.

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

J. Buchan, A. Brice, T. Bird, 2009, Neurology.

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q

T. Rebbeck, T. Bird, P. Chance, 1996, Neurology.

Electrodiagnostic evaluation of hereditary motor and sensory neuropathies.

Jay J. Han, P. Chance, J. England, 2003, Physical medicine and rehabilitation clinics of North America.

Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.

T. Bird, P. Chance, B. Tempel, 2002, American journal of human genetics.

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot‐Marie‐Tooth disease

J. Lupski, R. Lovelace, P. Chance, 1996, Human mutation.

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Hans D. Ochs, Mary E. Brunkow, H. Ochs, 2001, Immunogenetics.

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

N. Shimizu, T. Bird, P. Chance, 1993, Nature Genetics.

Overview of hereditary neuropathy with liability to pressure palsies.

P. Chance, 1999, Annals of the New York Academy of Sciences.

Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies

P. Chance, C. Bennett, 2001, Current opinion in neurology.

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

J M Lalouel, T D Bird, P. O'Connell, 1990, American journal of human genetics.

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies

T. Bird, M. Lensch, P. Chance, 1994, Neurology.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees

T. Bird, N. Matsunami, Brooke T. Smith, 1992, Neurology.

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

Nancy B. Spinner, N. Spinner, J. Golden, 1997, Nature Genetics.

Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2

P. Dyck, P. Chance, R. Yoshioka, 1996, Neurology.

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

D. Schaid, A. Aronson, T. Bird, 1994, Annals of neurology.

Molecular basis of spinal muscular atrophy: recent advances.

P. Chance, 1999 .

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

M. King, T. Bird, R. Lovelace, 1991, Human Genetics.

INHERITED PERIPHERAL NEUROPATHIES

D. Lynch, P. Chance, 1997 .

A 2D crossover–based map of the human X chromosome as a model for map integration

M. Econs, D. Barker, P. Fain, 1995, Nature Genetics.

Hereditary Neuralgic Amyotrophy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY

B. Engelen, N. Alfen, M. Hannibal, 1993 .

Inherited neuropathies

P. Chance, M. Reilly, 1994, Current Opinion in Neurology.

Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A.

T. Bird, M. Lensch, P. Chance, 1996, Cancer.

Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

P. Chance, I. Blair, C. Bennett, 2002, American journal of medical genetics.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families

P. Chance, G. Watts, K. O'Briant, 2002, Human Genetics.

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2‐12: Analysis with a CMT1A‐REP repeat probe and photostimulated luminescence imaging

G. Sobue, H. Kiyosawa, P. Chance, 1997, Human mutation.

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

M. King, T. Bird, R. Lovelace, 2004, Human Genetics.

Hereditary neuralgic amyotrophy

A. Windebank, P. Chance, 1996, Current opinion in neurology.

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

J. Meuleman, P. Chance, V. Timmerman, 2004, Muscle & nerve.

Molecular basis of hereditary neuropathies.

P. Chance, G. Watts, 2001, Advances in neurology.

Is there a familial carpal tunnel syndrome? An evaluation and literature review

P. Chance, Phillip F. Chance, Jeffrey G. Gossett, 1998 .

Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy

T. Bird, P. Chance, G. Watts, 2001, Neurology.

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

S. Cramer, I. Glass, R. Mahurin, 2004, Journal of child neurology.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

M. Dorschner, Daniel Bates, I. Glass, 2009, Journal of Medical Genetics.

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

H. Kiyosawa, D. Barker, P. Fain, 2000, American journal of human genetics.

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

B. Crain, M. Scavina, P. Chance, 1998, American journal of human genetics.

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

H. Mefford, E. Eichler, K. Buysse, 2009, Journal of Medical Genetics.

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

Y. Z. Chen, A. Bassuk, P. Chance, 2006, Neurogenetics.

Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations

I. Glass, J. Meuleman, P. Chance, 2003 .

Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

I. Glass, P. Chance, M. Parisi, 2004, American journal of medical genetics. Part A.

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

K. Fischbeck, M. Lensch, P. Chance, 1995, Neurology.

Linkage localization of X-linked Charcot-Marie-Tooth disease.

J. Haines, M. Pericak-Vance, K. Fischbeck, 1993, American journal of human genetics.

Clinical and molecular analysis in Joubert syndrome.

M. Muenke, M. Lensch, P. Chance, 1997, American journal of medical genetics.

Infantile spasms associated with proximal duplication of chromosome 15q.

E. Zackai, N. Spinner, P. Chance, 1996, Pediatric neurology.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.