V. Biancalana | Università di Urbino "Carlo Bo" (original) (raw)

Papers by V. Biancalana

Research paper thumbnail of Application of a differential optical atomic magnetometer to ultra-low field NMR detection

CLEO/Europe - EQEC 2009 - European Conference on Lasers and Electro-Optics and the European Quantum Electronics Conference, 2009

An all-optical atomic magnetometer is used to detect a proton free-precession signal from a water... more An all-optical atomic magnetometer is used to detect a proton free-precession signal from a water sample polarized in a 0.7 T field and remotely analyzed in a 4 lT field. Nuclear spins are manipulated either by p=2 pulses or by non-adiabatic rotation. The magnetometer operates at room temperature, in an unshielded environment and has a dual-channel sensor for differential measurements.

Research paper thumbnail of Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males

American journal of human genetics, 1996

The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot... more The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both the expansion and methylation status can be determined on a single EcoRI digest, because of the presence of a methylation-sensitive EcoRI site very close to the CCG repeat. We thus detected in a series of mentally retarded individuals previously tested for FRAXA expansion a FRAXE proband who led to the identification of a large sibship (7 of 10 children carrying a mutation). We also show that two fragile X families without FRAXA mutation that previously have been described by Oberlé et al. have the FRAXE expansion. In another family also ascertained initially by cytogenetic finding of a fragile X site, we performed the combined cytogenetic and molecular prenatal diagnosi...

Research paper thumbnail of Adult centronuclear myopathies: A hospital-based study

Research paper thumbnail of Dual channel self-oscillating optical magnetometer

Journal of the Optical Society of America B, 2009

We report on a two-channel magnetometer based on nonlinear magneto-optical rotation in a Cs glass... more We report on a two-channel magnetometer based on nonlinear magneto-optical rotation in a Cs glass cell with buffer gas. The Cs atoms are optically pumped and probed by free running diode lasers tuned to the D 2 line. A wide frequency modulation of the pump laser is used to produce both synchronous Zeeman optical pumping and hyperfine repumping. The magnetometer works in an unshielded environment and spurious signal from distant magnetic sources is rejected by means of differential measurement. In this regime the magnetometer simultaneously gives the magnetic field modulus and the field difference.

Research paper thumbnail of C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form

Neuromuscular Disorders, 2007

Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal cen... more Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal centralisation of nuclei in muscle fibres which is not secondary to excessive regeneration. The severe neonatal X-linked form (myotubular myopathy, XLMTM) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), while mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations of the amphiphysin 2 gene (also called BIN1, a putative tumor suppressor) in three families with autosomal recessive inheritance. Two different missense mutations in the BAR (Bin1/Amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, while a partial truncation of the C-terminal SH3 domain abrogates the interaction with dynamin 2 and its recruitment to the membrane tubules. Our results suggest that mutations in amphiphysin 2 cause recessive centronuclear myopathy by interfering with membrane remodeling, and that the functional interaction between amphiphysin 2 and dynamin 2 is necessary for normal muscle function.

Research paper thumbnail of 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

Neuromuscular Disorders, 2004

Research paper thumbnail of P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

Neuromuscular Disorders, 2011

Research paper thumbnail of A new class of sum rules for products of Bessel functions

Journal of Mathematical Physics, 2011

We derive a new class of sum rules for products of the Bessel functions of first kind.

Research paper thumbnail of Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2)

Human Genetics, 1994

We have screened fourteen kindreds with Xlinked hypophosphataemic rickets with four microsatellit... more We have screened fourteen kindreds with Xlinked hypophosphataemic rickets with four microsatellite markers, viz. AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) and cosmid contig. The genetic data were enhanced after the isolation of a large 1.2-megabase YAC derived from AFM 163yh2, in which marker DXS274 was present but not DXS365 or DXS443. Against HYP, DXS365, AFM163yh2 and DXS443 showed no recombinants (Z,,~_~ = 18.1, Zm~ = 9.9, and Z,~a x = 16.0 respectively). DXS999 gave Zmox = 9.6 at 4% recombination and lies distal to HYP but proximal to DXS197 and DXS43. The disease gene and markers AFM163yh2 and DXS365 are flanked by DXS443 and DXS274. Combining the genetic and physical data, we are able to propose the following gene marker order: Xptel-DXS43-DXS 197-DXS999-DXS 443 -[(DXS365-AFM 163 yh2), HYP] -DXS 274-DXS41-Xcen.

Research paper thumbnail of Le syndrome X fragile est encore méconnu: efficacité du diagnostic moléculaire chez les proposants avec retard mental

Archives de Pédiatrie, 1997

Background. — The fragile X mental retardation syndrome is the most common cause of inherited men... more Background. — The fragile X mental retardation syndrome is the most common cause of inherited mental retardation. Identification of the unstable mutation responsible for the disease has allowed the design of a fully reliable molecular test for the diagnosis of the disease and for genetic counselling (identification of clinically normal carriers and prenatal diagnosis). We started in July 1991 to

Research paper thumbnail of Expression hémicorporelle d’une myopathie myotubulaire liée à l’X (XLMTM) chez deux des trois femmes conductrices d’une même famille sans cas masculin

Revue Neurologique, 2008

IntroductionX-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations af... more IntroductionX-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations affecting the myotubulatin (MTM1) gene located on the X chromosome. Most of the affected males die in the early postnatal period whereas female carriers are usually asymptomatic.

Research paper thumbnail of Application of a differential optical atomic magnetometer to ultra-low field NMR detection

CLEO/Europe - EQEC 2009 - European Conference on Lasers and Electro-Optics and the European Quantum Electronics Conference, 2009

An all-optical atomic magnetometer is used to detect a proton free-precession signal from a water... more An all-optical atomic magnetometer is used to detect a proton free-precession signal from a water sample polarized in a 0.7 T field and remotely analyzed in a 4 lT field. Nuclear spins are manipulated either by p=2 pulses or by non-adiabatic rotation. The magnetometer operates at room temperature, in an unshielded environment and has a dual-channel sensor for differential measurements.

Research paper thumbnail of Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males

American journal of human genetics, 1996

The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot... more The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both the expansion and methylation status can be determined on a single EcoRI digest, because of the presence of a methylation-sensitive EcoRI site very close to the CCG repeat. We thus detected in a series of mentally retarded individuals previously tested for FRAXA expansion a FRAXE proband who led to the identification of a large sibship (7 of 10 children carrying a mutation). We also show that two fragile X families without FRAXA mutation that previously have been described by Oberlé et al. have the FRAXE expansion. In another family also ascertained initially by cytogenetic finding of a fragile X site, we performed the combined cytogenetic and molecular prenatal diagnosi...

Research paper thumbnail of Adult centronuclear myopathies: A hospital-based study

Research paper thumbnail of Dual channel self-oscillating optical magnetometer

Journal of the Optical Society of America B, 2009

We report on a two-channel magnetometer based on nonlinear magneto-optical rotation in a Cs glass... more We report on a two-channel magnetometer based on nonlinear magneto-optical rotation in a Cs glass cell with buffer gas. The Cs atoms are optically pumped and probed by free running diode lasers tuned to the D 2 line. A wide frequency modulation of the pump laser is used to produce both synchronous Zeeman optical pumping and hyperfine repumping. The magnetometer works in an unshielded environment and spurious signal from distant magnetic sources is rejected by means of differential measurement. In this regime the magnetometer simultaneously gives the magnetic field modulus and the field difference.

Research paper thumbnail of C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form

Neuromuscular Disorders, 2007

Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal cen... more Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal centralisation of nuclei in muscle fibres which is not secondary to excessive regeneration. The severe neonatal X-linked form (myotubular myopathy, XLMTM) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), while mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations of the amphiphysin 2 gene (also called BIN1, a putative tumor suppressor) in three families with autosomal recessive inheritance. Two different missense mutations in the BAR (Bin1/Amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, while a partial truncation of the C-terminal SH3 domain abrogates the interaction with dynamin 2 and its recruitment to the membrane tubules. Our results suggest that mutations in amphiphysin 2 cause recessive centronuclear myopathy by interfering with membrane remodeling, and that the functional interaction between amphiphysin 2 and dynamin 2 is necessary for normal muscle function.

Research paper thumbnail of 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

Neuromuscular Disorders, 2004

Research paper thumbnail of P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

Neuromuscular Disorders, 2011

Research paper thumbnail of A new class of sum rules for products of Bessel functions

Journal of Mathematical Physics, 2011

We derive a new class of sum rules for products of the Bessel functions of first kind.

Research paper thumbnail of Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2)

Human Genetics, 1994

We have screened fourteen kindreds with Xlinked hypophosphataemic rickets with four microsatellit... more We have screened fourteen kindreds with Xlinked hypophosphataemic rickets with four microsatellite markers, viz. AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) and cosmid contig. The genetic data were enhanced after the isolation of a large 1.2-megabase YAC derived from AFM 163yh2, in which marker DXS274 was present but not DXS365 or DXS443. Against HYP, DXS365, AFM163yh2 and DXS443 showed no recombinants (Z,,~_~ = 18.1, Zm~ = 9.9, and Z,~a x = 16.0 respectively). DXS999 gave Zmox = 9.6 at 4% recombination and lies distal to HYP but proximal to DXS197 and DXS43. The disease gene and markers AFM163yh2 and DXS365 are flanked by DXS443 and DXS274. Combining the genetic and physical data, we are able to propose the following gene marker order: Xptel-DXS43-DXS 197-DXS999-DXS 443 -[(DXS365-AFM 163 yh2), HYP] -DXS 274-DXS41-Xcen.

Research paper thumbnail of Le syndrome X fragile est encore méconnu: efficacité du diagnostic moléculaire chez les proposants avec retard mental

Archives de Pédiatrie, 1997

Background. — The fragile X mental retardation syndrome is the most common cause of inherited men... more Background. — The fragile X mental retardation syndrome is the most common cause of inherited mental retardation. Identification of the unstable mutation responsible for the disease has allowed the design of a fully reliable molecular test for the diagnosis of the disease and for genetic counselling (identification of clinically normal carriers and prenatal diagnosis). We started in July 1991 to

Research paper thumbnail of Expression hémicorporelle d’une myopathie myotubulaire liée à l’X (XLMTM) chez deux des trois femmes conductrices d’une même famille sans cas masculin

Revue Neurologique, 2008

IntroductionX-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations af... more IntroductionX-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations affecting the myotubulatin (MTM1) gene located on the X chromosome. Most of the affected males die in the early postnatal period whereas female carriers are usually asymptomatic.