Hereditary spastic paraplegias
en fr Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging Paraplégies spastiques héréditaires : exploration clinique au Soudan, études des origines moléculaires des formes autosomiques récessives et identification de nouveaux gènes en cause
... Words: Hereditary Spastic Paraplegia, SPG57/TFG, SPG11, SACS, ATL1, ...Pure Hereditary Spastic Paraplegias (HSP) and Hereditary ataxias (HA) represent the 67 extremes of the ...
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Recent advances in understanding hereditary spastic paraplegias and emerging therapies
... Abstract Hereditary spastic paraplegias (HSPs) are a group of rare, inherited, neurological diseases characterized by broad clinical and genetic ...of spastic ataxias which is actively ...
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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
... Abstract Hereditary spastic paraplegias (HSP) are rare neurodegenerative diseases sharing the degeneration of the corticospinal tracts as the main pathological character- ...
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Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
... Abstract Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders characterized by progressive weakness and spasticity of lower limbs, which are among the most ...
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Update on the genetics of spastic paraplegias
... for hereditary spastic paraplegias, for which >60 genes have been identified, highlighting (i) the considerable genetic heterogeneity of this group of clinically diverse disorders, (ii) the fuzzy ...
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Spastic co-contraction is directly associated with altered cortical beta oscillations after stroke
... 6. Conclusion These results suggest that cortical beta oscillation alterations may reflect an important neural mechanism underlying with spastic co-contraction of elbow muscles during movement following a stroke. ...
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Acute pancreatitis as initial presentation for hereditary spherocytosis: A case report
... Introduction Hereditary spherocytosis is one of the most common cause for hemolytic anemia and is due to a red cell membrane defect. The incidence is likely to be underestimate, as mild cases are often not ...
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Association between hereditary predisposition to common cancers and congenital multimalformations
... To the best of our knowledge, no research has been published on the incidence of congenital malformations in the offspring of parents with hereditary cancer risk. Sources of data on both conditions were available ...
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Benign hereditary chorea, not only chorea: a family case presentation
... Conclusions This family presented a broad spectrum of hyperkinetic movements with chorea as the most prominent symp- tom in the youngest generation, but with combinations of dystonia, myoclonus, mild ataxia and ...
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Finding good 2-partitions of digraphs I. Hereditary properties
... 2.1 Hereditary, checkable and enumerable properties Recall the definitions of the two classes of properties H, E : H ={acyclic, complete, arcless, oriented, semicomplete, symmetric, tournament} and E ={strongly ...
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MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
... The absence of familial antecedents in more than 65% of individuals, as well as the paternal transmission identified in 3 pedigrees, further supports previous suggestions of a paternal mode of transmission (13). This ...
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Finding good 2-partitions of digraphs I. Hereditary properties
... 2.1 Hereditary, checkable and enumerable properties Recall the definitions of the two classes of properties H, E: H ={acyclic, complete, arcless, oriented, semicomplete, symmetric, tournament} and E ={strongly ...
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The strong global dimension of piecewise hereditary algebras
... H 0 [ℓ − 1], respectively). It then follows from 3.4.3, parts (2) and (3), and from the fact that T ends in H 0 [ℓ] that the conclusion of the proposition holds true for T 4.2.4. When T starts in a one-parameter family ...
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On-line computation and maximum-weighted hereditary subgraph problems
... Abstract. In this paper, we study the on-line version of maximum- weighted hereditary subgraph problems. In our on-line model, the final instance-graph (which has n vertices) is revealed in t clusters, 2 ≤ t ≤ n. ...
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Algorithms for Symmetric Submodular Function Minimization under Hereditary Constraints and Generalizations
... Finally, we show how to extend our methods to return all the extreme subsets of certain classes of set functions, where a set is called extreme if its function value is strictly smaller than any one of its nontrivial ...
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Combined spastic paresis of both gastrocnemius and femoral quadriceps muscles in Belgian blue calves
... Faculté Médecine Vétérinaire, Université de Liège - Belgium Institute Spastic paresis of the hindlimb muscles is a well-known neuro-muscular disease. Frequent occurrence of an atypical form of the disease in ...
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Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax
... [9] Assefa D, Murphy RC, Bergman K, et al. Three faces of costal exostoses: case series and review of literature. Pediatr Emerg Care 2011;27: 1188 –91. [10] Pollitzer RC, Harrell GT, Postlethwait RW. Recurrent ...
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Linear Rank-Width of Distance-Hereditary Graphs I. A Polynomial-Time Algorithm
... It turns out that by applying local complementations on the marked vertices having a neighbor in B, in the right way depending on the type of B, we can avoid the difficulties showed in Figures 3 and 4, and indeed obtain ...
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View of The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review
... Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a painless, acute loss of central vision, with 95% of affected individuals harbouring one of three pathogenic mutations ...
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Controlling for lesions, kinematics and physiological noise: impact on fMRI results of spastic post-stroke patients
... During the fMRI examination, patients were in a supine position in the scanner, with their eyes closed. Before each scanning session, they were given instructions and familiarized with the fMRI paradigm. We administered ...
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