Results 11 to 20 of about 2,774 (188)

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries. [PDF]

Clin Genet
NEUROMYODredger‐3billion Megaproject was created to provide a genetic diagnosis for 245 children and adults with neurologic disorders in seven countries for free. With whole exome sequencing on a single patient, we could end the diagnostic odyssey in around 30% of cases.
Malfatti E, Caramizaru A, Lee H, Kim J, Shoaito H, Pennisi A, Souvannanorath S, Authier FJ, Dumitrescu A, Fahmy N, Escobar-Cedillo RE, Miranda-Duarte A, Luna-Angulo AB, Nouioua S, Benchaabi O, Tazir M, Hallal S, Martinez P, Castiglioni C, Dobrescu A, Tajsharghi H.   +20 more
europepmc   +3 more sources

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. [PDF]

Eur J Neurol
ABSTRACT Background and Aims In 2019, we conducted a cross‐sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed at investigating disease progression in 26 patients with CMT4B1/CMT4B2, recruited from the previous study and among the Inherited Neuropathy ...
Bertini A, Reilly MM, Pisciotta C, Previtali SC, Parman Y, Battaloglu E, Laurà M, Blake J, Sacconi S, Attarian S, Stojkovic T, Bellatache M, Nouioua S, Tazir M, Cakar A, Gambardella A, Valentino P, Lewis RA, Horvath R, Zambon AA, Sabatelli M, Luigetti M, Tozza S, Manganelli F, Herrmann DN, Scherer SS, Kressin N, Ward K, Bolino A, Shy ME, Pareyson D, CMT4B Study Group, Inherited Neuropathy Consortium.   +32 more
europepmc   +3 more sources

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. [PDF]

Mov Disord
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Maroofian R, Spoto G, Moualek D, Zaki MS, Biswas A, D'Arco F, Biglari S, Nikuei P, Gleeson JG, Tazir M, Ali Pacha L, Houlden H.   +11 more
europepmc   +3 more sources

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

Brain : a journal of neurology, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +2 more sources

A Spatio-Temporal Framework for Multi-Timescale and Multi-Objective Self-Adaptive Systems

IEEE Access
In today’s rapidly evolving digital landscape, the development of environmentally sustainable and adaptive software systems is gaining prominence.
Mohamed Hatem Tazir, Mohamed Lamine Berkane, Mohammed Nassim Lacheheub   +2 more
doaj   +2 more sources

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review. [PDF]

J Peripher Nerv Syst, 2022
Abstract Background and aims Charcot‐Marie‐Tooth disease (CMT) is the most common inherited peripheral neuropathy characterised by a high clinical and genetic heterogeneity. While most cases were described in populations with Caucasian ancestry, genetic research on CMT in Africa is scant.
Yalcouyé A, Esoh K, Guida L, Wonkam A.
europepmc   +2 more sources

Facilitators to Accessibility of HIV/AIDS-Related Health Services among Transgender Women Living with HIV in Yogyakarta, Indonesia. [PDF]

AIDS Res Treat, 2019
The study aimed to explore facilitators or enabling factors that enhance accessibility (defined as the opportunity to be able to use) to HIV/AIDS‐related health services among HIV positive transgender women, also known as Waria in Yogyakarta, Indonesia.
Fauk NK, Merry MS, Siri TA, Tazir FT, Sigilipoe MA, Tarigan KO, Mwanri L.   +6 more
europepmc   +2 more sources

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2. [PDF]

Brain Behav, 2020
TFG was a rare causative gene of CMT. In this study, we reported a novel TFG mutation in a Chinese pedigree with 8 CMT2 patients. Our report provided additional evidence that the heterozygous TFG mutations were associated with CMT2. b1: muscle atrophy of upper limbs in the proband (III‐14) b2: muscle atrophy of lower limbs in the proband (III‐14) b3 ...
Wu DW, Li Y, Yin X, Zhang B.
europepmc   +2 more sources

Characterization of Recessive Parkinson Disease in a Large Multicenter Study. [PDF]

Ann Neurol, 2020
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene‐targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ‐1
Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A, French Parkinson Disease Genetics Study Group.   +33 more
europepmc   +2 more sources

Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance. [PDF]

Mov Disord, 2020
The penetrance of leucine rich repeat kinase 2 (LRRK2) mutations is incomplete and may be influenced by environmental and/or other genetic factors. Nonsteroidal anti‐inflammatory drugs (NSAIDs) are known to reduce inflammation and may lower Parkinson's ...
San Luciano M, Tanner CM, Meng C, Marras C, Goldman SM, Lang AE, Tolosa E, Schüle B, Langston JW, Brice A, Corvol JC, Goldwurm S, Klein C, Brockman S, Berg D, Brockmann K, Ferreira JJ, Tazir M, Mellick GD, Sue CM, Hasegawa K, Tan EK, Bressman S, Saunders-Pullman R, Michael J. Fox Foundation LRRK2 Cohort Consortium.   +24 more
europepmc   +2 more sources