Results 151 to 160 of about 3,092 (251)

Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues [PDF]

, 1994
Reetta Vuolteenaho, Marja Nissinen, Kirsi Sainio, Mary Shannon Byers, Roger L. Eddy, H Hirvonen, TB Shows, Hannu Sariola, Eva Engvall, Karl Tryggvason   +9 more
openalex   +1 more source

High Anion Gap Metabolic Acidosis (HAGMA) After Levetiracetam Administration in an 11-Year-Old Boy With Laminin-α2-Deficiency-Associated Muscular Dystrophy and Epilepsy. [PDF]

J Pediatr Pharmacol Ther
Beusker PE, Mehrtens DM, Hamelmann E, Classen G.   +3 more
europepmc   +1 more source

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. [PDF]

J Clin Lab Anal, 2021
Khorrami A, Goleij P, Karamad V, Taheri E, Shadman B, Emami P, Jahangirzadeh G, Hajazimian S, Isazadeh A, Baradaran B, Heidari M.   +10 more
europepmc   +1 more source

A Homozygous <i>LAMA2</i> Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient

, 2017
Akatsuki Kubota, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Atsushi Iwata, Tomotaka Yamamoto, Ichizo Nishino, Shoji Tsuji, Jun Shimizu   +8 more
openalex   +2 more sources

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source

Laminin-111 Protein Therapy Reduces Muscle Pathology and Improves Viability of a Mouse Model of Merosin-Deficient Congenital Muscular Dystrophy [PDF]

, 2012
Jachinta E. Rooney, Jolie R. Knapp, Bradley L. Hodges, Ryan D. Wuebbles, Dean J. Burkin   +4 more
openalex   +1 more source

A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian Federation. [PDF]

Int J Mol Sci
Chausova P, Cherevatova T, Dadali E, Murtazina A, Bulakh M, Kurbatov S, Anisimova I, Kanivets I, Udalova V, Rudenskaya G, Demina N, Sharkova I, Monakhova A, Tsygankova P, Markova T, Ryzhkova O, Shatohina O, Galkina V, Borovikov A, Mishina I, Shchagina O, Chukhrova A, Polyakov A.   +22 more
europepmc   +1 more source

Mechano-Signal Transduction Pathways of the Diaphragmatic Muscle and Role of Cytoskeleton. [PDF]

Genes (Basel)
Mohamed JS, Pardo PS, Boriek AM.
europepmc   +1 more source

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum. [PDF]

Sci Rep, 2023
Summa S, Ittiwut C, Kulsirichawaroj P, Paprad T, Likasitwattanakul S, Sanmaneechai O, Boonsimma P, Suphapeetiporn K, Shotelersuk V.   +8 more
europepmc   +1 more source

Merosin-negative congenital muscular dystrophy: Report of five cases

, 2015
Faruk İncecik, OzlemM Hergüner, Serdar Ceylaner, Şakìr Altunbaşak   +3 more
openalex   +2 more sources