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Mendell JR ; Shieh PB ; McDonald CM ; Sahenk Z ; Lehman KJ ; Lowes LP ; Reash NF ; Iammarino MA ; Alfano LN ; Sabo B ; Woods JD ; Skura CL ; Mao HC ; Staudt LA ; Griffin DA ; Lewis S ; Wang S ; Potter RA ; Singh T ; Rodino-Klapac LR | 11/07/2023Article
Taubmann J ; Knitza J ; Muller F ; Völkl S ; Aigner M ; Kleyer A ; Gary R ; Kretschmann S ; Boeltz S ; Atzinger A ; Kuwert T ; Roemer F ; Uder M ; Mackensen A ; Schett G | 11/07/2023Article
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Shaikh U ; Khan A ; Kumari P ; Ishfaq A ; Ekhator C ; Yousuf P ; Halappa Nagaraj R ; Raza H ; Ur Rehman U ; Zaman MU ; Lakshmipriya Vetrivendan G ; Nguyen N ; Kadel B ; Sherpa TN ; Ullah A ; Bellegarde SB | 07/2023Article
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Hamm SE ; Yuan C ; McQueen LF ; Wallace MA ; Zhang H ; Arora A ; Garafalo AM ; McMillan RP ; Lawlor MW ; Prom MJ ; Ott EM ; Yan J ; Addington AK ; Morris CA ; Gonzalez JP ; Grange RW | 26/06/2023Article
Shell RD ; McGrattan KE ; Hurst-Davis R ; Young SD ; Baranello G ; Lavrov A ; O'Brien E ; Wallach S ; LaMarca N ; Reyna SP ; Darras BT | 22/06/2023Article
Almeida CF ; Robriquet F ; Vetter TA ; Huang N ; Neinast R ; Hernandez-Rosario L ; Rajakumar D ; Arnold WD ; McBride KL ; Flanigan KM ; Weiss RB ; Wein N | 15/06/2023Article
Piletska E ; Veron P ; Bertin B ; Mingozzi F ; Jones D ; Norman RL ; Earley J ; Karim K ; Garcia-Cruz A ; Piletsky S | 15/06/2023Article
Correction: Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen. BMC Neurol. 2023 Jun 22;23(1):241. doi: 10.1186/s12883-023-03289-1Article
Benasutti H ; Maricelli JW ; Seto J ; Hall J ; Halbert C ; Wicki J ; Chamberlain JS | 04/06/2023Article
Gromova A ; Cha B ; Robinson EM ; Strickland LM ; Nguyen N ; Elmallah MK ; Cortes CJ ; La Spada AR | 02/06/2023AFM Publication
Myoinfo, Author ; Malfatti E, Validator ; Marty I, Validator ; Nicot AS, Validator ; Gilby E, Translator | AFM-TELETHON | Savoir & Comprendre | 06/2023Congenital myopathies are a heterogenous group of rare diseases characterised by structural abnormalities in muscle fibres which are most often detected at a young age. These abnormalities lead to muscle weakness (hypotonia and impaired motor sk[...]