Paul Calva - Academia.edu (original) (raw)

Papers by Paul Calva

Research paper thumbnail of Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

European Journal of Human Genetics, 2006

ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, w... more ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. In this study, we report on the mutational analysis of ANT1, TWINKLE and POLG genes in 15 unrelated patients, using a dHPLC-based protocol. This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome. A total of seven different mutations were identified in six of 15 patients (40%). Six different recessive mutations were found in POLG, one in TWINKLE while no mutation was identified in ANT1. Among the POLG mutations, three are novel and include two missense and one frameshift changes. Seventeen neutral changes and polymorphisms were also identified, including four novel neutral polymorphisms. Overall, this study illustrates the variability of phenotypes associated with mtDNA stability defects, increases the mutational spectrum of POLG variants and provides an efficient and reliable detection protocol for ANT1, TWINKLE and POLG mutational screening.

Research paper thumbnail of Acoplanarity and radiative corrections in Bhabha scattering

Lettere Al Nuovo Cimento, 1972

Research paper thumbnail of Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Nature Genetics, 2004

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We ha... more Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. António dos Capuchos, Lisboa, Portugal.

Research paper thumbnail of Effects of gonadectomy on the secondary sexual characters in the ganoid fish, Amia calva linnaeus

Journal of Experimental Zoology, 1932

Research paper thumbnail of The Impact of Changes in Water Level and Human Development on Forage Fish Assemblages in Great Lakes Coastal Marshes

Journal of Great Lakes Research, 2008

Changes in water levels and development of shorelines are expected to negatively affect coastal m... more Changes in water levels and development of shorelines are expected to negatively affect coastal marshes. The small-bodied fish assemblage was sampled in the inner marsh vegetation zone in five Les Cheneaux bays with differing levels of development. Observations were made from 1996 to 2004 during which time summer water levels varied from 177.2 m to 176.0 m (chart datum = 176.0 m). Each marsh was sampled for 10 consecutive days in July and August using gangs of five baited commercial minnow traps. Assemblage composition was assayed by species richness, the number of native minnow species, the percentage of selected tolerant fishes (bowfin, Amia calva, mudminnow, Umbra limi, common carp, Cyprinus carpio, and brown bullhead, Ameiurus nebulosus), and catch-per-unit-effort (CPUE). There were no consistent relationships between fish assemblage measures and year, water level, annual change in water level, exposure, and water temperature. Fish assemblage measures except CPUE were impacted by the density of building along the shoreline, a measure of development. Impervious surface area was < 4.5% and was not consistently related to fish assemblage measures. INDEX WORDS: Coastal marsh, water level, human development, fish assemblages.

Research paper thumbnail of A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Human Mutation, 1996

ABSTRACT

Research paper thumbnail of A H Németh, I Le Ber, J-C Moniz, C Tranchant

Research paper thumbnail of Public Economics after The Idea of Justice

Journal of Human Development and Capabilities, 2012

In this first lecture in honour of Amartya Sen, I examine the lessons that can be drawn from The ... more In this first lecture in honour of Amartya Sen, I examine the lessons that can be drawn from The Idea of Justice for public economics and the extent to which public economics has already moved in the direction advocated by Sen. More specifically, I focus on the current fiscal austerity programmes, and how the tools of public economics can be used to contribute to public reasoning about such programmes. I argue that they can help us think about the balance between cutting spending and raising taxes, and about the key role of public investment. But the Sen critique of welfare economics mean that we have to re-think public economics. The subject has been slow to absorb new ideas for the evaluative basis, and public economics, while extending its positive analysis to allow for international interactions, has failed to develop a normative approach to global justice.

Research paper thumbnail of Erbium-doped fiber amplifiers: Theory of upconversion-pumped operation with a signal wavelength of 850 nm

Journal of The Optical Society of America B-optical Physics, 1993

A model is presented for erbium-doped fiber amplifiers that operate by an upconversion process in... more A model is presented for erbium-doped fiber amplifiers that operate by an upconversion process in which two pump photons at -800 nm are absorbed and can provide an inverted population and hence the ability to amplify signal photons at -850 nm. The most important spectroscopic features of the amplifier are identified and used to formulate a theory that predicts how the amplifier gain varies with fiber length and doping density, as well as with launched pump and signal powers. The limitation that amplified spontaneous emission imposes on the gain is investigated, and useful approximate formulas are derived in the limit where amplified spontaneous emission is negligible. 0740-3224/93/040666-11$05.00

Research paper thumbnail of Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

European Journal of Human Genetics, 2007

ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, w... more ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. In this study, we report on the mutational analysis of ANT1, TWINKLE and POLG genes in 15 unrelated patients, using a dHPLC-based protocol. This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome. A total of seven different mutations were identified in six of 15 patients (40%). Six different recessive mutations were found in POLG, one in TWINKLE while no mutation was identified in ANT1. Among the POLG mutations, three are novel and include two missense and one frameshift changes. Seventeen neutral changes and polymorphisms were also identified, including four novel neutral polymorphisms. Overall, this study illustrates the variability of phenotypes associated with mtDNA stability defects, increases the mutational spectrum of POLG variants and provides an efficient and reliable detection protocol for ANT1, TWINKLE and POLG mutational screening.

Research paper thumbnail of Investigar Redes Sociales

¿Cómo entender a la fotografía en el nuevo paradigma que impone el escenario digital? Hoy en día,... more ¿Cómo entender a la fotografía en el nuevo paradigma que impone el escenario digital? Hoy en día, para comprender los fenómenos de la fotografía digital es necesario comprender también que forma parte de toda una arquitectura tecnológica y que es un objeto estético, social, económico y cultural, como siempre lo ha sido, pero potenciado por las características específicas de lo digital, es decir, por su naturaleza numérica y por su inmanente capacidad de socialización. ¿En qué clase de laberinto se ha metido la fotografía para ser comprendida? ¿Cuáles son las prácticas culturales y las competencias tecnológicas de los nuevos fotógrafos? Hay quienes hablan ya de postfotografía y del fin de la fotografía o de la hiperfotografía.

Research paper thumbnail of Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

European Journal of Human Genetics, 2006

ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, w... more ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. In this study, we report on the mutational analysis of ANT1, TWINKLE and POLG genes in 15 unrelated patients, using a dHPLC-based protocol. This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome. A total of seven different mutations were identified in six of 15 patients (40%). Six different recessive mutations were found in POLG, one in TWINKLE while no mutation was identified in ANT1. Among the POLG mutations, three are novel and include two missense and one frameshift changes. Seventeen neutral changes and polymorphisms were also identified, including four novel neutral polymorphisms. Overall, this study illustrates the variability of phenotypes associated with mtDNA stability defects, increases the mutational spectrum of POLG variants and provides an efficient and reliable detection protocol for ANT1, TWINKLE and POLG mutational screening.

Research paper thumbnail of Acoplanarity and radiative corrections in Bhabha scattering

Lettere Al Nuovo Cimento, 1972

Research paper thumbnail of Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Nature Genetics, 2004

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We ha... more Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. António dos Capuchos, Lisboa, Portugal.

Research paper thumbnail of Effects of gonadectomy on the secondary sexual characters in the ganoid fish, Amia calva linnaeus

Journal of Experimental Zoology, 1932

Research paper thumbnail of The Impact of Changes in Water Level and Human Development on Forage Fish Assemblages in Great Lakes Coastal Marshes

Journal of Great Lakes Research, 2008

Changes in water levels and development of shorelines are expected to negatively affect coastal m... more Changes in water levels and development of shorelines are expected to negatively affect coastal marshes. The small-bodied fish assemblage was sampled in the inner marsh vegetation zone in five Les Cheneaux bays with differing levels of development. Observations were made from 1996 to 2004 during which time summer water levels varied from 177.2 m to 176.0 m (chart datum = 176.0 m). Each marsh was sampled for 10 consecutive days in July and August using gangs of five baited commercial minnow traps. Assemblage composition was assayed by species richness, the number of native minnow species, the percentage of selected tolerant fishes (bowfin, Amia calva, mudminnow, Umbra limi, common carp, Cyprinus carpio, and brown bullhead, Ameiurus nebulosus), and catch-per-unit-effort (CPUE). There were no consistent relationships between fish assemblage measures and year, water level, annual change in water level, exposure, and water temperature. Fish assemblage measures except CPUE were impacted by the density of building along the shoreline, a measure of development. Impervious surface area was < 4.5% and was not consistently related to fish assemblage measures. INDEX WORDS: Coastal marsh, water level, human development, fish assemblages.

Research paper thumbnail of A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Human Mutation, 1996

ABSTRACT

Research paper thumbnail of A H Németh, I Le Ber, J-C Moniz, C Tranchant

Research paper thumbnail of Public Economics after The Idea of Justice

Journal of Human Development and Capabilities, 2012

In this first lecture in honour of Amartya Sen, I examine the lessons that can be drawn from The ... more In this first lecture in honour of Amartya Sen, I examine the lessons that can be drawn from The Idea of Justice for public economics and the extent to which public economics has already moved in the direction advocated by Sen. More specifically, I focus on the current fiscal austerity programmes, and how the tools of public economics can be used to contribute to public reasoning about such programmes. I argue that they can help us think about the balance between cutting spending and raising taxes, and about the key role of public investment. But the Sen critique of welfare economics mean that we have to re-think public economics. The subject has been slow to absorb new ideas for the evaluative basis, and public economics, while extending its positive analysis to allow for international interactions, has failed to develop a normative approach to global justice.

Research paper thumbnail of Erbium-doped fiber amplifiers: Theory of upconversion-pumped operation with a signal wavelength of 850 nm

Journal of The Optical Society of America B-optical Physics, 1993

A model is presented for erbium-doped fiber amplifiers that operate by an upconversion process in... more A model is presented for erbium-doped fiber amplifiers that operate by an upconversion process in which two pump photons at -800 nm are absorbed and can provide an inverted population and hence the ability to amplify signal photons at -850 nm. The most important spectroscopic features of the amplifier are identified and used to formulate a theory that predicts how the amplifier gain varies with fiber length and doping density, as well as with launched pump and signal powers. The limitation that amplified spontaneous emission imposes on the gain is investigated, and useful approximate formulas are derived in the limit where amplified spontaneous emission is negligible. 0740-3224/93/040666-11$05.00

Research paper thumbnail of Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

European Journal of Human Genetics, 2007

ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, w... more ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. In this study, we report on the mutational analysis of ANT1, TWINKLE and POLG genes in 15 unrelated patients, using a dHPLC-based protocol. This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome. A total of seven different mutations were identified in six of 15 patients (40%). Six different recessive mutations were found in POLG, one in TWINKLE while no mutation was identified in ANT1. Among the POLG mutations, three are novel and include two missense and one frameshift changes. Seventeen neutral changes and polymorphisms were also identified, including four novel neutral polymorphisms. Overall, this study illustrates the variability of phenotypes associated with mtDNA stability defects, increases the mutational spectrum of POLG variants and provides an efficient and reliable detection protocol for ANT1, TWINKLE and POLG mutational screening.

Research paper thumbnail of Investigar Redes Sociales

¿Cómo entender a la fotografía en el nuevo paradigma que impone el escenario digital? Hoy en día,... more ¿Cómo entender a la fotografía en el nuevo paradigma que impone el escenario digital? Hoy en día, para comprender los fenómenos de la fotografía digital es necesario comprender también que forma parte de toda una arquitectura tecnológica y que es un objeto estético, social, económico y cultural, como siempre lo ha sido, pero potenciado por las características específicas de lo digital, es decir, por su naturaleza numérica y por su inmanente capacidad de socialización. ¿En qué clase de laberinto se ha metido la fotografía para ser comprendida? ¿Cuáles son las prácticas culturales y las competencias tecnológicas de los nuevos fotógrafos? Hay quienes hablan ya de postfotografía y del fin de la fotografía o de la hiperfotografía.