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Academic Journal

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

  • Authors : Modoni A; Department of Neuroscience, Catholic University, Rome, Italy.; D'Amico A

Subjects: Electric Stimulation/Electric Stimulation/Electric Stimulation/*methods ; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*diagnosis ; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*physiopathology

  • Source: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society [J Clin Neurophysiol] 2011 Feb; Vol. 28 (1), pp. 39-44.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8506708 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

  • Authors : Louie CM; Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA.; Caridi G

Subjects: Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/*pathology ; Proto-Oncogene Proteins/Proto-Oncogene Proteins/Proto-Oncogene Proteins/*metabolism ; Retinal Degeneration/Retinal Degeneration/Retinal Degeneration/*pathology

  • Source: Nature genetics [Nat Genet] 2010 Feb; Vol. 42 (2), pp. 175-80. Date of Electronic Publication: 2010 Jan 17.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A nationwide genetic testing survey in Italy, year 2007.

  • Authors : Dallapiccola B; IRCCS-Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, and CSS-Mendel Institute, Rome, Italy. ; Torrente I

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Genetic Testing*/Genetic Testing*/Genetic Testing*/organization & administration ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Feb; Vol. 14 (1), pp. 17-22.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Mutation screening of the DYT6/THAP1 gene in Italy.

  • Authors : Bonetti M; IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome, Italy.; Barzaghi C

Subjects: Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Dystonia Musculorum Deformans/Dystonia Musculorum Deformans/Dystonia Musculorum Deformans/*genetics

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2009 Dec 15; Vol. 24 (16), pp. 2424-7.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Internet ISSN: 1531-8257

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GIGYF2 variants are not associated with Parkinson's disease in Italy.

Subjects: Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; Parkinson Disease/Parkinson Disease/Parkinson Disease/*genetics; Humans

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2009 Sep 15; Vol. 24 (12), pp. 1867-8; author reply 1868-9.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Internet ISSN: 1531-8257

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Academic Journal

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

  • Authors : Chessa L; II School of Medicine, University La Sapienza, I-00189 Roma, Italy. ; Piane M

Subjects: Founder Effect* ; Mutation*; Ataxia Telangiectasia/Ataxia Telangiectasia/Ataxia Telangiectasia/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2009 Sep; Vol. 73 (Pt 5), pp. 532-9.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Internet ISSN: 1469-1809

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Academic Journal

Interaction between PPARgamma2 variants and gender on the modulation of body weight.

Subjects: Sex Characteristics*; Body Weight/Body Weight/Body Weight/*genetics ; PPAR gamma/PPAR gamma/PPAR gamma/*genetics

  • Source: Obesity (Silver Spring, Md.) [Obesity (Silver Spring)] 2008 Jun; Vol. 16 (6), pp. 1467-70. Date of Electronic Publication: 2008 Apr 03.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101264860 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Subjects: Genetic Variation*; Parkinson Disease/Parkinson Disease/Parkinson Disease/*genetics ; Protein Kinases/Protein Kinases/Protein Kinases/*genetics

  • Source: Human mutation [Hum Mutat] 2008 Apr; Vol. 29 (4), pp. 565.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Academic Journal

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.

  • Authors : De Luca A; IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.; Bottillo I

Subjects: Gene Deletion* ; Gene Dosage* ; Genes, Neurofibromatosis 1*

  • Source: Journal of medical genetics [J Med Genet] 2007 Dec; Vol. 44 (12), pp. 800-8.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

  • Authors : Signori E; Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of Medicine and Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy. ; Massi E

Subjects: Mutation*; Bone Neoplasms/Bone Neoplasms/Bone Neoplasms/*genetics ; N-Acetylglucosaminyltransferases/N-Acetylglucosaminyltransferases/N-Acetylglucosaminyltransferases/*genetics

  • Source: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2007 May; Vol. 46 (5), pp. 470-7.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Print ISSN: 1045-2257 (Print)

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