Results 191 to 200 of about 269,697 (252)

Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene‐Based Classification and a Reappraisal of the Oculomotor Phenotype

Movement Disorders Clinical Practice, EarlyView.
Luiz Eduardo Novis, Flávio Moura Rezende Filho, Anna Maria Gomes, Victor Rebelo Procaci, Orlando Graziani Povoas Barsottini, José Luiz Pedroso   +5 more
wiley   +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji   +4 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

The natural history of autosomal recessive atrial dilated cardiomyopathy associated with mutation of natriuretic peptide precursor A. [PDF]

Europace
Marini M, Iseppi M, Quintarelli S, Tedoldi F, Ravelli F, Bonmassari R, Arbustini E.   +6 more
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease. [PDF]

JPGN Rep
Kurkal K, Gupte GL.
europepmc   +1 more source

PSMF1 Variants in a German Parkinson's Disease Cohort

Movement Disorders, EarlyView.
Carolin Gabbert, Christoph Much, Alicia Wenghöfer, André Fienemann, Susen Schaake, Theresa Lüth, Max Borsche, Norbert Brüggemann, Christine Klein, Joanne Trinh   +9 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Autosomal Recessive Atrial Dilated Cardiomyopathy Due to NPPA Mutation in a Young Patient. [PDF]

J Cardiovasc Dev Dis
Marini M, Iseppi M, Quintarelli S, Tedoldi F, Ravelli F, Bonmassari R, Arbustini E.   +6 more
europepmc   +1 more source

PINK1‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

Movement Disorders, EarlyView.
Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden   +7 more
wiley   +1 more source