Results 161 to 170 of about 269,697 (252)

A role for <i>EHMT2</i> in a novel autosomal recessive neurodevelopmental syndrome? A case report. [PDF]

Front Genet
Rots D, de Oliveira BC, Carvalho LML, Zhao X, Sadikovic B, Sim T, Rigobello R, Tedder M, Donoghue S, Maripuri DP, Hnizda A, Barr E, Fletcher R, Noskova L, Li D, Kleefstra T, Zackai EH, Barrero MJ, Krepischi ACV, Strong A.   +19 more
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort. [PDF]

Hum Mutat
Shokouhian E, Moslemi M, Moghadam MG, Molaei N, Alagha P, Reshadmanesh A, Arzhangi S, Ghodratpour F, Celik M, Kadioglu IS, Edizadeh M, Akbari MR, Kahrizi K, Najmabadi H.   +13 more
europepmc   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]

JACC Case Rep
Sterner RM, Coon LM, Black JL, Moyer AM, Maleszewski JJ, Baudhuin LM.   +5 more
europepmc   +1 more source

Monilethrix Presenting With Diffuse Fragile Hair in an Adult Female

JEADV Clinical Practice, EarlyView.
Mandy Robertson, Jeffrey Donovan
wiley   +1 more source

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers. [PDF]

Neurol Genet
Gaynor A, Enicks D, Karam K, Turcios-Hernandez L, Provenzano M, Heier CR, Hale MA, Johnson NE.   +7 more
europepmc   +1 more source

Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease. [PDF]

Inflamm Res
Alsabbagh M, Hubrack SZ, Gamgoum L, Osman MJA, Ford KE, Al Shakaki A, Robay A, Sarakbi H, Al Emadi S, Mackeh R, Fakhro KA, Lo B.   +11 more
europepmc   +1 more source

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum. [PDF]

Orphanet J Rare Dis
Ikenoshita S, Nomura T, Shimazaki H, Uetani H, Nakahara K, Okazaki T, Imamura M, Mizutani H, Fudo A, Jo Y, Matsubara S, Higuchi Y, Hirai T, Takashima H, Ueda M.   +14 more
europepmc   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source