The Sixth Mass Extinction: fact, fiction or speculation?
There have been five Mass Extinction events in the history of Earth's biodiversity, all caused
by dramatic but natural phenomena. It has been claimed that the Sixth Mass Extinction may …
by dramatic but natural phenomena. It has been claimed that the Sixth Mass Extinction may …
The primary periodic paralyses: diagnosis, pathogenesis and treatment
SL Venance, SC Cannon, D Fialho, B Fontaine… - Brain, 2006 - academic.oup.com
Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often
potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. …
potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. …
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment
…, SL Venance, SC Cannon, D Sternberg, B Fontaine… - Brain, 2010 - academic.oup.com
The non-dystrophic myotonias are an important group of skeletal muscle channelopathies
electrophysiologically characterized by altered membrane excitability. Many distinct clinical …
electrophysiologically characterized by altered membrane excitability. Many distinct clinical …
[HTML][HTML] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
… Figure 1B shows the absence of a 5.6 kb EcoRI band in the patient DNA, thus confirming …
(B) PCR amplification of the deletion junction of family 1 using primers c113 and c114 (upper …
(B) PCR amplification of the deletion junction of family 1 using primers c113 and c114 (upper …
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
…, P Pasinelli, H Goolsby, BA Fontaine… - Nature …, 2010 - nature.com
… (b,c) The positive staining observed for SALS1 was lost when C4F6 was excluded from
the staining protocol (b) or when the alternative SOD1-mutant specific A9G3 antibody was …
the staining protocol (b) or when the alternative SOD1-mutant specific A9G3 antibody was …
Farmland practices are driving bird population decline across Europe
…, C Domşa, V Escandell, B Fontaine… - Proceedings of the …, 2023 - National Acad Sciences
… C is therefore a solution to the singularity value decomposition of B = A . C where A is the nx
… j = W k X j t k , and B is the n dimensional vector of the future values of x i , B k = W k X i t k + …
… j = W k X j t k , and B is the n dimensional vector of the future values of x i , B k = W k X i t k + …
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
…, JM Burgunder, JF Prud'homme, A Brice, B Fontaine… - Nature …, 1999 - nature.com
… The BAC name (A, B, C and so on) is followed by the clone name (in parentheses), preceded
by 'b' when the clone was selected from the CITB_978_SKB library and by 'B' when the …
by 'b' when the clone was selected from the CITB_978_SKB library and by 'B' when the …
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
…, S Nicole, B de Vries, FD Tiziano, B Fontaine… - Nature …, 2012 - nature.com
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome
characterized by recurrent hemiplegic episodes and distinct neurological manifestations. …
characterized by recurrent hemiplegic episodes and distinct neurological manifestations. …
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-…
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-…
Electromyography guides toward subgroups of mutations in muscle channelopathies
…, JC Willer, N Tabti, B Fontaine - Annals of Neurology …, 2004 - Wiley Online Library
… B–E) Changes in CMAP amplitude of abductor digiti minimi (ADM) muscle following short
exercise (double bars) in 41 unaffected controls (B… unaffected individuals (Fig 4B). In hypoPP-1 …
exercise (double bars) in 41 unaffected controls (B… unaffected individuals (Fig 4B). In hypoPP-1 …