G. M. Saifi

发表

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

J. Lupski, F. Quiocho, C. Boerkoel, 2002, Nature Genetics.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

founder effect mutations, inheritance, phenotypic variability, and Genetics of Charcot-Marie-Tooth disease type 4A:

J. Lupski, L. Pedrola, J. Berciano, 2006 .

TO JMG Genetics of Charcot-Marie-Tooth disease type 4 A : mutations , inheritance , phenotypic variability , and founder effect

J. Lupski, J. Millán, L. Pedrola, 2005 .

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.

J. Lupski, A. Kochański, I. Hausmanowa-Petrusewicz, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

sY116, a human Y-linked polymorphic STS

R. Veitia, M. Fellous, G. M. Saifi, 2000, Journal of Genetics.

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

J. Lupski, K. Szigeti, D. Sherman, 2007, Neurogenetics.

A novel mutation 5’ to the HMG box of theSRY gene in a case of Swyer syndrome

R. Veitia, M. Fellous, K. McElreavey, 1999, Journal of Genetics.

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

J. Lupski, K. Szigeti, G. M. Saifi, 2003, Journal of Investigative Medicine.

Psychiatric genetics: methods and reviews

J. Lupski, K. Szigeti, K. Eldin, 2004, Journal of Medical Genetics.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

J. Lupski, Meredith Wilson, W. Bi, 2004, Human Genetics.

RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome

J. Lupski, H. Firth, S. Girirajan, 2006, American journal of medical genetics. Part A.

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

J. Lupski, T. Helleday, M. Weinfeld, 2005, Nature.

Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

P. Stankiewicz, J. Lupski, J. Limon, 2006, American journal of medical genetics. Part A.

SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation

J. Lupski, K. Szigeti, W. Wiszniewski, 2005, Human mutation.

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

J. Lupski, J. Millán, F. Palau, 2005, Journal of Medical Genetics.

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

J. Lupski, J. Belmont, K. Szigeti, 2003, Annals of neurology.

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

J. Lupski, K. Szigeti, G. M. Saifi, 2003, Journal of Investigative Medicine.

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

Alu‐repeat–induced deletions within the NCF2 gene causing p67‐phox–deficient chronic granulomatous disease (CGD)

J. Casanova, M. Gahr, G. Dbaibo, 2010, Human mutation.

Increased blood–brain barrier permeability with thymidine phosphorylase deficiency

J. Lupski, K. Szigeti, A. Adesina, 2004, Annals of neurology.