Publications by NG Members

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• England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Muscle Nerve. 2009;39:106-15.
• England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review). Muscle Nerve. 2009;39:116-25.
• England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) report of the american academy of neurology, the american association of neuromuscular and electrodiagnostic medicine, and the american academy of physical medicine and rehabilitation. Pm R. 2009;1:14-22.
• England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Jr., Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009;72:185-92.
• England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Jr., Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009;72:177-84.
• England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role ofLaboratory and Genetic Testing (An Evidence-Based Review) Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. Pm R. 2009;1:5-13.
• Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet. 2009;17:703-10.

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• Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 2008;59:947-58.
• Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008;38:1170-7.

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• Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007;448:68-72.
• Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos S, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007;8:257-62.

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• Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol. 2006;63:521-7.
• Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006;26:319-27.
• Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006;16:276-81.
• Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006;59:358-64.
• Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006;8:86-92.
• Szigeti K, Nelis E, Lupski JR. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med. 2006;8:243-54.
• Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006;129:2093-102.

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• Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005;14:205-20.
• Moretti P, Hedera P, Wald J, Fink J. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov Disord. 2005;20:245-7.
• Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005;64:1088-90.
• Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005;25:372-83.

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• Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A. 2004;124:392-6.
• Moretti P, Lieberman AP, Wilde EA, Giordani BI, Kluin KJ, Koeppe RA, Minoshima S, Kuhl DE, Seltzer WK, Foster NL. Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Neurology. 2004;62:1865-8.
• Szigeti K, Sule N, Adesina AM, Armstrong DL, Saifi GM, Bonilla E, Hirano M, Lupski JR. Increased blood-brain barrier permeability with thymidine phosphorylase deficiency. Ann Neurol. 2004;56:881-6.
• Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004;41:125-9.
• Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004;66:128-36.

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• Gruis KL, Moretti P, Gebarski SS, Mikol DD. Cerebellitis in an adult with abnormal magnetic resonance imaging findings prior to the onset of ataxia. Arch Neurol. 2003;60:877-80.
• Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003;51:261-83.
• Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res. 2003;101:118-23.
• Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003;54:398-402.

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• Moretti P, Shore D. Multiple interactions in Sir protein recruitment by Rap1p at silencers and telomeres in yeast. Mol Cell Biol. 2001;21:8082-94.
• Marcand S, Buck SW, Moretti P, Gilson E, Shore D. Silencing of genes at nontelomeric sites in yeast is controlled by sequestration of silencing factors at telomeres by Rap 1 protein. Genes Dev. 1996;10:1297-309.
• Ausoni S, Campione M, Picard A, Moretti P, Vitadello M, De Nardi C, Schiaffino S. Structure and regulation of the mouse cardiac troponin I gene. J Biol Chem. 1994;269:339-46.
• Moretti P, Freeman K, Coodly L, Shore D. Evidence that a complex of SIR proteins interacts with the silencer and telomere-binding protein RAP1. Genes Dev. 1994;8:2257-69.
• DeNardi C, Ausoni S, Moretti P, Gorza L, Velleca M, Buckingham M, Schiaffino S. Type 2X-myosin heavy chain is coded by a muscle fiber type-specific and developmentally regulated gene. J Cell Biol. 1993;123:823-35.
• Sarzani R, Arnaldi G, De Pirro R, Moretti P, Schiaffino S, Rappelli A. A novel endothelial tyrosine kinase cDNA homologous to platelet-derived growth factor receptor cDNA. Biochem Biophys Res Commun. 1992;186:706-14.
• Ausoni S, De Nardi C, Moretti P, Gorza L, Schiaffino S. Developmental expression of rat cardiac troponin I mRNA. Development. 1991;112:1041-51.
• LaFramboise WA, Daood MJ, Guthrie RD, Schiaffino S, Moretti P, Brozanski B, Ontell MP, Butler-Browne GS, Whalen RG, Ontell M. Emergence of the mature myosin phenotype in the rat diaphragm muscle. Dev Biol. 1991;144:1-15.
• LaFramboise WA, Daood MJ, Guthrie RD, Moretti P, Schiaffino S, Ontell M. Electrophoretic separation and immunological identification of type 2X myosin heavy chain in rat skeletal muscle. Biochim Biophys Acta. 1990;1035:109-12.