L. E. Warner

发表

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

J. Lupski, C. Boerkoel, L. Reiter, 1999, Annals of the New York Academy of Sciences.

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

J. Lupski, I. Butler, P. Mancias, 1998, Nature Genetics.

Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

J. Lupski, J. Phillips, B. Garg, 1999, Pediatric neurology.

Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.

J. Lupski, C. Garcia, Carlos A. Garcia, 1999, Annual review of medicine.

Chapter 72 – Hereditary Motor and Sensory Neuropathy Related to Early Growth Response 2 (EGR2) Gene

J. Lupski, L. E. Warner, 2005 .

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

J. Lupski, C. van Broeckhoven, V. Timmerman, 1999, Neurology.

Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease

J. Lupski, J. England, A. Sumner, 2000, Muscle & nerve.

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.

Settling the myelin protein zero question in CMT1B

J. Lupski, B. Roa, L. E. Warner, 1995, Nature Genetics.

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot‐marie‐tooth disease type 1A

J. Lupski, B. Roa, L. E. Warner, 1996, Human mutation.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

J. Lupski, C. Boerkoel, L. Reiter, 1999, Annals of the New York Academy of Sciences.

DNA rearrangements affecting dosage sensitive genes

J. Lupski, L. Reiter, T. Murakami, 1996 .

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

J. Lupski, J. Milbrandt, J. Svaren, 1999, Human molecular genetics.

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

J. Lupski, C. Broeckhoven, E. Nelis, 1996, Neuron.

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

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

Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.

J. Lupski, L. Reiter, L. E. Warner, 1996, Cold Spring Harbor symposia on quantitative biology.

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine‐Sottas case

J. Lupski, M. Shohat, Z. Shorer, 1997, Human mutation.

Expression of Dp260 in muscle tethers the actin cytoskeleton to the dystrophin-glycoprotein complex and partially prevents dystrophy.

J. Ervasti, J. Chamberlain, C. Dellorusso, 2002, Human molecular genetics.