Search Results

Clinical trials in pediatric ALS: a TRICALS feasibility study.

• Authors : Kliest, Tessa; Van Eijk, Ruben P.A.; Al-Chalabi, Ammar

Subjects: CLINICAL trials; AMYOTROPHIC lateral sclerosis; FEASIBILITY studiesEUROPEAN Medicines Agency

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; Nov2022, Vol. 23 Issue 7/8, p481-488, 8p

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The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.

• Authors : Pradat, Pierre-François; Bernard, Emilien; Corcia, Philippe

• Source: Orphanet Journal of Rare Diseases. April 10, 2020, Vol. 15 Issue 1.

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Protocole d’utilisation thérapeutique et de suivi dans le cadre d’une autorisation d’accès compassionnel (AAC) pour AMX0035 aux patients atteints de sclérose latérale amyotrophique (SLA) en France

• Authors : Le Goff, Marie; Duchesne, Aude-Marie; Simone, Behre

• Source: Revue Neurologique; April 2024, Vol. 180 Issue: 1, Number 1 Supplement 1 pS107-S107, 1p

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Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

• Authors : Corcia, Philippe; Lunetta, Christian; Couratier, Philippe

Subjects: AMYOTROPHIC lateral sclerosis; SYMPTOMS; NEURODEGENERATION

• Source: European Journal of Neurology; Aug2021, Vol. 28 Issue 8, p2780-2783, 4p

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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

• Authors : Dogan, Celine; De Antonio, Marie; Hamroun, Dalil

• Source: PLoS ONE. February 5, 2016, Vol. 11 Issue 2

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

• Authors : Byrne, Barry J.; Geberhiwot, Tarekegn; Barshop, Bruce A.

• Source: Orphanet Journal of Rare Diseases. August 24, 2017, Vol. 12 Issue 1.

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

• Authors : Lemmers, Richard J.L.F.; Tawil, Rabi; Petek, Lisa M.

• Source: Nature Genetics. December 1, 2012, Vol. 44 Issue 12, p1370, 7 p.

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Effect of familial clustering in the genetic screening of 235 French ALS families.

• Authors : Corcia, Philippe; Camu, William; Brulard, Celine

Subjects: GENETIC testing; PHARMACOLOGY; AMYOTROPHIC lateral sclerosis

• Source: Journal of Neurology, Neurosurgery & Psychiatry; May2021, Vol. 92 Issue 5, p479-484, 6p

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Memory B Cells Predict Relapse in Rituximab-Treated Myasthenia Gravis.

• Authors : Ruetsch-Chelli, Caroline; Bresch, Saskia; Seitz-Polski, Barbara

• Source: Neurotherapeutics; Apr2021, Vol. 18 Issue 2, p938-948, 11p

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

• Authors : Freischmidt, Axel; Wieland, Thomas; Richter, Benjamin

Subjects: AMYOTROPHIC lateral sclerosis; DEMENTIA; NEURODEGENERATION

• Source: Nature Neuroscience. May2015, Vol. 18 Issue 5, p631-636. 6p. 2 Diagrams, 2 Charts, 1 Graph.

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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

• Authors : Salort-Campana, Emmanuelle; Nguyen, Karine; Bernard, Rafaelle

• Source: Orphanet Journal of Rare Diseases. January 21, 2015, Vol. 10.

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The D4Z4 macrosatellite repeat acts as a CTCF and A-type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

• Authors : Ottaviani, Alexandre; Rival-Gervier, Sylvie; Boussouar, Amina

• Source: PLoS Genetics. Feb, 2009, Vol. 5 Issue 2

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Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

• Authors : Bakkouche, Salah; Corcia, Philippe; Salachas, FranÇois

Subjects: AMYOTROPHIC lateral sclerosis; SPINAL muscular atrophy; PATHOLOGICAL physiology

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; Aug2018, Vol. 19 Issue 5/6, p432-437, 6p

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Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.

• Authors : Hachulla, Eric; Le Masson, Gwendal; Solé, Guilhem

Subjects: THERAPEUTIC use of immunoglobulins; AUTOIMMUNE diseases; DRUG side effectsFRANCE

• Source: BioMed Research International; 3/15/2018, Vol. 2018, p1-10, 10p

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Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis.

• Authors : Le Masson, Gwendal; Solé, Guilhem; Desnuelle, Claude

• Source: Brain & Behavior; Feb2018, Vol. 8 Issue 2, p1-1, 8p

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July 2017 ENCALS statement on edaravone.

• Authors : Al-Chalabi, Ammar; Andersen, Peter M.; Chandran, Siddharthan

Subjects: AMYOTROPHIC lateral sclerosis; MOTOR neuron diseases

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; Nov2017, Vol. 18 Issue 7/8, p471-474, 4p

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Bent spine syndrome as the initial symptom of late-onset Pompe disease.

• Authors : Taisne, Nicolas; Desnuelle, Claude; Juntas Morales, Raul

• Source: Muscle & Nerve; Jul2017, Vol. 56 Issue 1, p167-170, 4p

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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

• Authors : Ploeg, A. T.; Kruijshaar, M. E.; Toscano, A.

Subjects: GLYCOGEN storage disease type II; QUALITY of life; ENZYMES

• Source: European Journal of Neurology; Jun2017, Vol. 24 Issue 6, p768-768, 14p, 1 Diagram, 2 Charts, 1 Graph

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Reply to the letter from Gazulla et al.

• Authors : Corcia, Philippe; Lunetta, Christian; Couratier, Philippe

Subjects: AMYOTROPHIC lateral sclerosis; FRONTOTEMPORAL lobar degeneration; MOTOR neuron diseases

• Source: European Journal of Neurology; Jan2022, Vol. 29 Issue 1, pe3-e4, 2p

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Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

• Authors : Doix, Aude-Clémence M.; Roeleveld, Karin; Garcia, Jérémy

• Source: American Journal of Physical Medicine & Rehabilitation; Apr2017, Vol. 96 Issue 4, pe56-e63, 8p

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Cannabis for the treatment of Amyotrophic Lateral Sclerosis: what is the patients’ view?

• Authors : Lacroix, Clémence; Guilhaumou, Romain; Micallef, Joëlle

• Source: Revue Neurologique; 20230101, Issue: Preprints

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

• Authors : Naïmi, Mourad; Bannwarth, Sylvie; Procaccio, Vincent

Subjects: MITOCHONDRIAL DNA; GENETIC mutation; ADENINE nucleotides

• Source: European Journal of Human Genetics. Aug2006, Vol. 14 Issue 8, p917-922. 6p. 2 Charts, 2 Graphs.

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Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

• Authors : Pini, Jonathan; Rouleau, Matthieu; Desnuelle, Claude

• Source: Stem Cells & Development; Jan2016, Vol. 25 Issue 2, p151-159, 9p

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The European LEMS Registry: Baseline Demographics and Treatment Approaches.

• Authors : Mantegazza, Renato; Meisel, Andreas; Sieb, Joern

• Source: Neurology & Therapy; Dec2015, Vol. 4 Issue 2, p105-124, 20p

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Deciphering spreading mechanisms in amyotrophic lateral sclerosis: clinical evidence and potential molecular processes.

• Authors : Pradat, Pierre-François; Kabashi, Edor; Desnuelle, Claude

• Source: Current Opinion in Neurology; Oct 2015, Vol. 28 Issue 5, p455-461, 7p

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