Biblio

7 resultats trouvés
Filtres: Auteur is Tranchant, Christine  [Clear All Filters]
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Roux T, Barbier M, Papin M, Davoine C-S, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C et al..  Submitted.  Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. GENETICS IN MEDICINE.
Roux T, Barbier M, Papin M, Davoine C-S, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C et al..  Submitted.  Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. GENETICS IN MEDICINE.
Taieb G, Mulero P, Psimaras D, van Oosten BW, Seebach JD, Marignier R, Pico F, Rigau V, Ueno Y, Duflos C et al..  2019.  CLIPPERS and its mimics: evaluation of new criteria for the diagnosis of CLIPPERS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 90:1027-1038.
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Hamidou B, Marin B, Lautrette G, Nicol M, Camu W, Corcia P, Arnes-Bes M-C, Tranchant C, Clavelou P, Hannequin D et al..  2017.  Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment. AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION. 18:519-527.
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Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchere F, Magne FOry, Halleb Y, Renaud M et al..  2021.  High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families. GENETICS IN MEDICINE. 23:2160-2170.
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Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-Francois L, Meneret A, Gras D et al..  2020.  Increased diagnostic yield in complex dystonia through exome sequencing. PARKINSONISM & RELATED DISORDERS. 74:50-56.
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Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JLouis, Hamza W, Benhassine T, Ali-Pacha L et al..  2016.  Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. JOURNAL OF NEUROLOGY. 263:1314-1322.